STAT1 (signal transducer and activator of transcription 1)

Gene

• Entrez ID: 6772
• Gene name: Signal transducer and activator of transcription 1
• Gene symbol: STAT1
• Synonyms: CANDF7, IMD31A, IMD31B, IMD31C, ISGF-3, STAT91
• Chromosome: 2
• Chromosome location: 2q32.2
• Summary: The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the ce

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41473544	C>T	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs56228116	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs137852677	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852678	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852679	C>A,T	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs137852680	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906758	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906759	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906760	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906761	T>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906762	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906763	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906764	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906765	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906766	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906767	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906768	T>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587776713	TC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587776714	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587776870	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777628	G>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777629	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777630	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777704	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777705	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs755837357	TTCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs778254943	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs796065052	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs863223398	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886043118	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064794955	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1085307649	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1341038926	->C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553494436	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553495184	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553496850	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553497886	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1559011859	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1559019204	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574636674	G>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1574640523	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1574648928	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574653439	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574657735	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574657750	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574657762	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1574672718	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000626	hsa-miR-145-5p	qRT-PCR, Luciferase reporter assay, Western blot, Microarray	20098684
MIRT000626	hsa-miR-145-5p	Luciferase reporter assay	20098684
MIRT021229	hsa-miR-146a-5p	Microarray	20110513
MIRT025278	hsa-miR-34a-5p	Proteomics	21566225
MIRT040456	hsa-miR-615-3p	CLASH	23622248
MIRT021229	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23890093
MIRT021229	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23890093
MIRT640324	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT640323	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT640322	hsa-miR-1183	HITS-CLIP	23824327
MIRT640321	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT640320	hsa-miR-5009-3p	HITS-CLIP	23824327
MIRT640319	hsa-miR-4693-5p	HITS-CLIP	23824327
MIRT640318	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT640317	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT640316	hsa-miR-653-5p	HITS-CLIP	23824327
MIRT731704	hsa-miR-140-5p	5.0	26780721
MIRT731704	hsa-miR-140-5p	5.0	26780721
MIRT021229	hsa-miR-146a-5p	qRT-PCR, Western blot	25889446
MIRT735637	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	26025667
MIRT735637	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	26025667
MIRT735637	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	26025667
MIRT735637	hsa-miR-223-3p	Luciferase reporter assay, qRT-PCR, Western blot	26025667
MIRT021229	hsa-miR-146a-5p	qRT-PCR	28077577
MIRT732496	hsa-miR-6825-5p	Microarray	32597160
MIRT732497	hsa-miR-4495	Microarray	32597160
MIRT732498	hsa-miR-5580-3p	Microarray	32597160
MIRT732806	hsa-miR-455-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	33505218
MIRT732903	hsa-let-7i-3p	Immunofluorescence, RNA-seq, qRT-PCR, Western blotting	33239422
MIRT732905	hsa-miR-423-3p	Immunofluorescence, RNA-seq, qRT-PCR, Western blotting	33239422
MIRT734444	hsa-let-7b-5p	ELISA, Luciferase reporter assay, qRT-PCR	33005103
MIRT735199	hsa-miR-103a-2-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR, In situ hybridization, Flow cytometry	32549769
MIRT735637	hsa-miR-223-3p	qRT-PCR	32048448
MIRT735638	hsa-miR-448	qRT-PCR	32048448
MIRT640324	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT640323	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT640322	hsa-miR-1183	HITS-CLIP	23824327
MIRT640321	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT640320	hsa-miR-5009-3p	HITS-CLIP	23824327
MIRT640319	hsa-miR-4693-5p	HITS-CLIP	23824327
MIRT640318	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT640317	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT640316	hsa-miR-653-5p	HITS-CLIP	23824327
MIRT755907	hsa-miR-1296-5p	Luciferase reporter assay, Western blotting, qRT-PCR, RNA pull down assay	37187897
MIRT756283	hsa-miR-338-3p	Luciferase reporter assay, Western blotting, qRT-PCR	37479855
MIRT1395625	hsa-miR-1257	CLIP-seq
MIRT1395626	hsa-miR-1261	CLIP-seq
MIRT1395627	hsa-miR-1273g	CLIP-seq
MIRT1395628	hsa-miR-146a	CLIP-seq
MIRT1395629	hsa-miR-146b-5p	CLIP-seq
MIRT1395630	hsa-miR-155	CLIP-seq
MIRT1395631	hsa-miR-185	CLIP-seq
MIRT1395632	hsa-miR-3074-3p	CLIP-seq
MIRT1395633	hsa-miR-3121-3p	CLIP-seq
MIRT1395634	hsa-miR-3123	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT1395636	hsa-miR-3201	CLIP-seq
MIRT1395637	hsa-miR-323b-5p	CLIP-seq
MIRT1395638	hsa-miR-3607-3p	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT1395640	hsa-miR-3688-3p	CLIP-seq
MIRT1395641	hsa-miR-3689a-3p	CLIP-seq
MIRT1395642	hsa-miR-3689c	CLIP-seq
MIRT1395643	hsa-miR-4287	CLIP-seq
MIRT1395644	hsa-miR-4306	CLIP-seq
MIRT1395645	hsa-miR-4422	CLIP-seq
MIRT1395646	hsa-miR-4481	CLIP-seq
MIRT1395647	hsa-miR-4644	CLIP-seq
MIRT1395648	hsa-miR-4662a-5p	CLIP-seq
MIRT1395649	hsa-miR-4685-3p	CLIP-seq
MIRT1395650	hsa-miR-4700-3p	CLIP-seq
MIRT1395651	hsa-miR-4745-5p	CLIP-seq
MIRT1395652	hsa-miR-4758-5p	CLIP-seq
MIRT1395653	hsa-miR-4764-3p	CLIP-seq
MIRT1395654	hsa-miR-4768-3p	CLIP-seq
MIRT1395655	hsa-miR-4780	CLIP-seq
MIRT1395656	hsa-miR-4789-3p	CLIP-seq
MIRT1395657	hsa-miR-4791	CLIP-seq
MIRT1395658	hsa-miR-494	CLIP-seq
MIRT1395659	hsa-miR-548a-3p	CLIP-seq
MIRT1395660	hsa-miR-548c-3p	CLIP-seq
MIRT1395661	hsa-miR-548e	CLIP-seq
MIRT1395662	hsa-miR-548f	CLIP-seq
MIRT1395663	hsa-miR-570	CLIP-seq
MIRT1395664	hsa-miR-623	CLIP-seq
MIRT1395665	hsa-miR-630	CLIP-seq
MIRT1395666	hsa-miR-656	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT1395668	hsa-miR-30a	CLIP-seq
MIRT1395669	hsa-miR-30b	CLIP-seq
MIRT1395670	hsa-miR-30c	CLIP-seq
MIRT1395671	hsa-miR-30d	CLIP-seq
MIRT1395672	hsa-miR-30e	CLIP-seq
MIRT1395673	hsa-miR-3119	CLIP-seq
MIRT1395674	hsa-miR-4464	CLIP-seq
MIRT1395675	hsa-miR-4639-3p	CLIP-seq
MIRT1395676	hsa-miR-4748	CLIP-seq
MIRT1395677	hsa-miR-668	CLIP-seq
MIRT1554200	hsa-miR-199a-3p	CLIP-seq
MIRT1554201	hsa-miR-199b-3p	CLIP-seq
MIRT1554202	hsa-miR-3129-5p	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT1554203	hsa-miR-3681	CLIP-seq
MIRT1554204	hsa-miR-4274	CLIP-seq
MIRT1554205	hsa-miR-4519	CLIP-seq
MIRT1395659	hsa-miR-548a-3p	CLIP-seq
MIRT1395661	hsa-miR-548e	CLIP-seq
MIRT1395662	hsa-miR-548f	CLIP-seq
MIRT2118687	hsa-miR-1252	CLIP-seq
MIRT2118688	hsa-miR-1273d	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT2118689	hsa-miR-376c	CLIP-seq
MIRT2118690	hsa-miR-4277	CLIP-seq
MIRT2118691	hsa-miR-4496	CLIP-seq
MIRT2118692	hsa-miR-4697-3p	CLIP-seq
MIRT2118693	hsa-miR-513c	CLIP-seq
MIRT2118694	hsa-miR-514b-5p	CLIP-seq
MIRT2118695	hsa-miR-548b-3p	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT2118696	hsa-miR-4708-3p	CLIP-seq
MIRT1395668	hsa-miR-30a	CLIP-seq
MIRT1395669	hsa-miR-30b	CLIP-seq
MIRT1395670	hsa-miR-30c	CLIP-seq
MIRT1395671	hsa-miR-30d	CLIP-seq
MIRT1395672	hsa-miR-30e	CLIP-seq
MIRT1395674	hsa-miR-4464	CLIP-seq
MIRT1395676	hsa-miR-4748	CLIP-seq
MIRT2433629	hsa-miR-1297	CLIP-seq
MIRT1554200	hsa-miR-199a-3p	CLIP-seq
MIRT1554201	hsa-miR-199b-3p	CLIP-seq
MIRT2433630	hsa-miR-223	CLIP-seq
MIRT2433631	hsa-miR-26a	CLIP-seq
MIRT2433632	hsa-miR-26b	CLIP-seq
MIRT1554202	hsa-miR-3129-5p	CLIP-seq
MIRT2433633	hsa-miR-3140-3p	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT1554203	hsa-miR-3681	CLIP-seq
MIRT2118689	hsa-miR-376c	CLIP-seq
MIRT2433634	hsa-miR-380	CLIP-seq
MIRT2433635	hsa-miR-382	CLIP-seq
MIRT2433636	hsa-miR-4272	CLIP-seq
MIRT1554204	hsa-miR-4274	CLIP-seq
MIRT2433637	hsa-miR-4299	CLIP-seq
MIRT2433638	hsa-miR-4456	CLIP-seq
MIRT2433639	hsa-miR-4465	CLIP-seq
MIRT1554205	hsa-miR-4519	CLIP-seq
MIRT2433640	hsa-miR-4536	CLIP-seq
MIRT2433641	hsa-miR-4691-3p	CLIP-seq
MIRT2118692	hsa-miR-4697-3p	CLIP-seq
MIRT2433642	hsa-miR-4795-3p	CLIP-seq
MIRT2433643	hsa-miR-548q	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT2634677	hsa-miR-101	CLIP-seq
MIRT2634678	hsa-miR-1227	CLIP-seq
MIRT1395625	hsa-miR-1257	CLIP-seq
MIRT2634679	hsa-miR-1262	CLIP-seq
MIRT1395627	hsa-miR-1273g	CLIP-seq
MIRT2634680	hsa-miR-1303	CLIP-seq
MIRT2634681	hsa-miR-1305	CLIP-seq
MIRT2634682	hsa-miR-1322	CLIP-seq
MIRT2634683	hsa-miR-1323	CLIP-seq
MIRT2634684	hsa-miR-144	CLIP-seq
MIRT1395628	hsa-miR-146a	CLIP-seq
MIRT1395629	hsa-miR-146b-5p	CLIP-seq
MIRT2634685	hsa-miR-150	CLIP-seq
MIRT1395630	hsa-miR-155	CLIP-seq
MIRT1395631	hsa-miR-185	CLIP-seq
MIRT2634686	hsa-miR-188-3p	CLIP-seq
MIRT1554200	hsa-miR-199a-3p	CLIP-seq
MIRT1554201	hsa-miR-199b-3p	CLIP-seq
MIRT2634687	hsa-miR-2113	CLIP-seq
MIRT2634688	hsa-miR-27a	CLIP-seq
MIRT2634689	hsa-miR-27b	CLIP-seq
MIRT2634690	hsa-miR-297	CLIP-seq
MIRT1395632	hsa-miR-3074-3p	CLIP-seq
MIRT1395673	hsa-miR-3119	CLIP-seq
MIRT2634691	hsa-miR-3120-3p	CLIP-seq
MIRT1395634	hsa-miR-3123	CLIP-seq
MIRT2634692	hsa-miR-3126-3p	CLIP-seq
MIRT1554202	hsa-miR-3129-5p	CLIP-seq
MIRT2634693	hsa-miR-3143	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT2634694	hsa-miR-3149	CLIP-seq
MIRT2634695	hsa-miR-3163	CLIP-seq
MIRT2634696	hsa-miR-3189-3p	CLIP-seq
MIRT1395637	hsa-miR-323b-5p	CLIP-seq
MIRT2634697	hsa-miR-3545-3p	CLIP-seq
MIRT1395638	hsa-miR-3607-3p	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT2634698	hsa-miR-3614-5p	CLIP-seq
MIRT2634699	hsa-miR-3653	CLIP-seq
MIRT2634700	hsa-miR-3658	CLIP-seq
MIRT1554203	hsa-miR-3681	CLIP-seq
MIRT2634701	hsa-miR-3685	CLIP-seq
MIRT1395640	hsa-miR-3688-3p	CLIP-seq
MIRT1395641	hsa-miR-3689a-3p	CLIP-seq
MIRT1395642	hsa-miR-3689c	CLIP-seq
MIRT2118689	hsa-miR-376c	CLIP-seq
MIRT2634702	hsa-miR-3919	CLIP-seq
MIRT2634703	hsa-miR-3925-5p	CLIP-seq
MIRT2634704	hsa-miR-3973	CLIP-seq
MIRT2634705	hsa-miR-410	CLIP-seq
MIRT2634706	hsa-miR-421	CLIP-seq
MIRT1554204	hsa-miR-4274	CLIP-seq
MIRT2118690	hsa-miR-4277	CLIP-seq
MIRT2634707	hsa-miR-4279	CLIP-seq
MIRT1395643	hsa-miR-4287	CLIP-seq
MIRT2634708	hsa-miR-4303	CLIP-seq
MIRT1395644	hsa-miR-4306	CLIP-seq
MIRT2634709	hsa-miR-4307	CLIP-seq
MIRT2634710	hsa-miR-4310	CLIP-seq
MIRT2634711	hsa-miR-4330	CLIP-seq
MIRT1395645	hsa-miR-4422	CLIP-seq
MIRT2634712	hsa-miR-4424	CLIP-seq
MIRT2634713	hsa-miR-4426	CLIP-seq
MIRT2634714	hsa-miR-4455	CLIP-seq
MIRT2634715	hsa-miR-4474-3p	CLIP-seq
MIRT1395646	hsa-miR-4481	CLIP-seq
MIRT2118691	hsa-miR-4496	CLIP-seq
MIRT1554205	hsa-miR-4519	CLIP-seq
MIRT2433640	hsa-miR-4536	CLIP-seq
MIRT1395647	hsa-miR-4644	CLIP-seq
MIRT2634716	hsa-miR-4647	CLIP-seq
MIRT2634717	hsa-miR-4662b	CLIP-seq
MIRT2634718	hsa-miR-4682	CLIP-seq
MIRT1395649	hsa-miR-4685-3p	CLIP-seq
MIRT2433641	hsa-miR-4691-3p	CLIP-seq
MIRT2634719	hsa-miR-4695-5p	CLIP-seq
MIRT1395650	hsa-miR-4700-3p	CLIP-seq
MIRT2634720	hsa-miR-4701-3p	CLIP-seq
MIRT2634721	hsa-miR-4709-5p	CLIP-seq
MIRT2634722	hsa-miR-4713-5p	CLIP-seq
MIRT2634723	hsa-miR-4720-3p	CLIP-seq
MIRT2634724	hsa-miR-4724-3p	CLIP-seq
MIRT2634725	hsa-miR-4738-3p	CLIP-seq
MIRT1395651	hsa-miR-4745-5p	CLIP-seq
MIRT2634726	hsa-miR-4756-3p	CLIP-seq
MIRT1395652	hsa-miR-4758-5p	CLIP-seq
MIRT2634727	hsa-miR-4762-3p	CLIP-seq
MIRT1395653	hsa-miR-4764-3p	CLIP-seq
MIRT2634728	hsa-miR-4764-5p	CLIP-seq
MIRT1395654	hsa-miR-4768-3p	CLIP-seq
MIRT2634729	hsa-miR-4775	CLIP-seq
MIRT1395655	hsa-miR-4780	CLIP-seq
MIRT2634730	hsa-miR-4782-5p	CLIP-seq
MIRT1395656	hsa-miR-4789-3p	CLIP-seq
MIRT2634731	hsa-miR-4804-3p	CLIP-seq
MIRT2634732	hsa-miR-491-3p	CLIP-seq
MIRT1395658	hsa-miR-494	CLIP-seq
MIRT2634733	hsa-miR-495	CLIP-seq
MIRT2634734	hsa-miR-508-3p	CLIP-seq
MIRT2634735	hsa-miR-5096	CLIP-seq
MIRT2634736	hsa-miR-513a-3p	CLIP-seq
MIRT2634737	hsa-miR-513a-5p	CLIP-seq
MIRT2118693	hsa-miR-513c	CLIP-seq
MIRT2118694	hsa-miR-514b-5p	CLIP-seq
MIRT2634738	hsa-miR-532-3p	CLIP-seq
MIRT2634739	hsa-miR-532-5p	CLIP-seq
MIRT2634740	hsa-miR-543	CLIP-seq
MIRT1395659	hsa-miR-548a-3p	CLIP-seq
MIRT2634741	hsa-miR-548ac	CLIP-seq
MIRT2634742	hsa-miR-548ae	CLIP-seq
MIRT2634743	hsa-miR-548ag	CLIP-seq
MIRT2634744	hsa-miR-548ai	CLIP-seq
MIRT2634745	hsa-miR-548aj	CLIP-seq
MIRT2634746	hsa-miR-548am	CLIP-seq
MIRT1395660	hsa-miR-548c-3p	CLIP-seq
MIRT2634747	hsa-miR-548d-3p	CLIP-seq
MIRT1395661	hsa-miR-548e	CLIP-seq
MIRT1395662	hsa-miR-548f	CLIP-seq
MIRT2634748	hsa-miR-548k	CLIP-seq
MIRT2634749	hsa-miR-548m	CLIP-seq
MIRT2634750	hsa-miR-548n	CLIP-seq
MIRT2634751	hsa-miR-548o	CLIP-seq
MIRT2634752	hsa-miR-548x	CLIP-seq
MIRT2634753	hsa-miR-548z	CLIP-seq
MIRT2634754	hsa-miR-562	CLIP-seq
MIRT2634755	hsa-miR-568	CLIP-seq
MIRT1395663	hsa-miR-570	CLIP-seq
MIRT2634756	hsa-miR-576-3p	CLIP-seq
MIRT2634757	hsa-miR-584	CLIP-seq
MIRT2634758	hsa-miR-586	CLIP-seq
MIRT2634759	hsa-miR-590-3p	CLIP-seq
MIRT2634760	hsa-miR-598	CLIP-seq
MIRT2634761	hsa-miR-609	CLIP-seq
MIRT1395664	hsa-miR-623	CLIP-seq
MIRT1395666	hsa-miR-656	CLIP-seq
MIRT2634762	hsa-miR-759	CLIP-seq
MIRT2634763	hsa-miR-892a	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT2634764	hsa-miR-938	CLIP-seq
MIRT2634678	hsa-miR-1227	CLIP-seq
MIRT2634679	hsa-miR-1262	CLIP-seq
MIRT1395627	hsa-miR-1273g	CLIP-seq
MIRT2634680	hsa-miR-1303	CLIP-seq
MIRT2634681	hsa-miR-1305	CLIP-seq
MIRT2634682	hsa-miR-1322	CLIP-seq
MIRT2634683	hsa-miR-1323	CLIP-seq
MIRT2634685	hsa-miR-150	CLIP-seq
MIRT1395630	hsa-miR-155	CLIP-seq
MIRT2634686	hsa-miR-188-3p	CLIP-seq
MIRT1554200	hsa-miR-199a-3p	CLIP-seq
MIRT1554201	hsa-miR-199b-3p	CLIP-seq
MIRT2692198	hsa-miR-203	CLIP-seq
MIRT2692199	hsa-miR-2052	CLIP-seq
MIRT2634688	hsa-miR-27a	CLIP-seq
MIRT2634689	hsa-miR-27b	CLIP-seq
MIRT2634690	hsa-miR-297	CLIP-seq
MIRT1395632	hsa-miR-3074-3p	CLIP-seq
MIRT1395673	hsa-miR-3119	CLIP-seq
MIRT2634691	hsa-miR-3120-3p	CLIP-seq
MIRT1395634	hsa-miR-3123	CLIP-seq
MIRT2634692	hsa-miR-3126-3p	CLIP-seq
MIRT1554202	hsa-miR-3129-5p	CLIP-seq
MIRT2634693	hsa-miR-3143	CLIP-seq
MIRT1395635	hsa-miR-3148	CLIP-seq
MIRT2634694	hsa-miR-3149	CLIP-seq
MIRT2634695	hsa-miR-3163	CLIP-seq
MIRT2634697	hsa-miR-3545-3p	CLIP-seq
MIRT1395639	hsa-miR-3611	CLIP-seq
MIRT2634698	hsa-miR-3614-5p	CLIP-seq
MIRT1554203	hsa-miR-3681	CLIP-seq
MIRT2634701	hsa-miR-3685	CLIP-seq
MIRT1395640	hsa-miR-3688-3p	CLIP-seq
MIRT2118689	hsa-miR-376c	CLIP-seq
MIRT2634702	hsa-miR-3919	CLIP-seq
MIRT2634703	hsa-miR-3925-5p	CLIP-seq
MIRT2634704	hsa-miR-3973	CLIP-seq
MIRT2634705	hsa-miR-410	CLIP-seq
MIRT2634706	hsa-miR-421	CLIP-seq
MIRT1554204	hsa-miR-4274	CLIP-seq
MIRT2118690	hsa-miR-4277	CLIP-seq
MIRT2634707	hsa-miR-4279	CLIP-seq
MIRT2634708	hsa-miR-4303	CLIP-seq
MIRT2634709	hsa-miR-4307	CLIP-seq
MIRT2634710	hsa-miR-4310	CLIP-seq
MIRT2634711	hsa-miR-4330	CLIP-seq
MIRT1395645	hsa-miR-4422	CLIP-seq
MIRT2634712	hsa-miR-4424	CLIP-seq
MIRT2634713	hsa-miR-4426	CLIP-seq
MIRT2634714	hsa-miR-4455	CLIP-seq
MIRT1395646	hsa-miR-4481	CLIP-seq
MIRT2118691	hsa-miR-4496	CLIP-seq
MIRT1554205	hsa-miR-4519	CLIP-seq
MIRT2433640	hsa-miR-4536	CLIP-seq
MIRT2634716	hsa-miR-4647	CLIP-seq
MIRT2634717	hsa-miR-4662b	CLIP-seq
MIRT2634718	hsa-miR-4682	CLIP-seq
MIRT2634719	hsa-miR-4695-5p	CLIP-seq
MIRT2634720	hsa-miR-4701-3p	CLIP-seq
MIRT2634721	hsa-miR-4709-5p	CLIP-seq
MIRT2634722	hsa-miR-4713-5p	CLIP-seq
MIRT2634723	hsa-miR-4720-3p	CLIP-seq
MIRT2634724	hsa-miR-4724-3p	CLIP-seq
MIRT2634725	hsa-miR-4738-3p	CLIP-seq
MIRT1395651	hsa-miR-4745-5p	CLIP-seq
MIRT2634726	hsa-miR-4756-3p	CLIP-seq
MIRT1395652	hsa-miR-4758-5p	CLIP-seq
MIRT2634727	hsa-miR-4762-3p	CLIP-seq
MIRT2634728	hsa-miR-4764-5p	CLIP-seq
MIRT2634729	hsa-miR-4775	CLIP-seq
MIRT2634730	hsa-miR-4782-5p	CLIP-seq
MIRT1395656	hsa-miR-4789-3p	CLIP-seq
MIRT2634731	hsa-miR-4804-3p	CLIP-seq
MIRT2634732	hsa-miR-491-3p	CLIP-seq
MIRT1395658	hsa-miR-494	CLIP-seq
MIRT2634734	hsa-miR-508-3p	CLIP-seq
MIRT2634735	hsa-miR-5096	CLIP-seq
MIRT2634736	hsa-miR-513a-3p	CLIP-seq
MIRT2634737	hsa-miR-513a-5p	CLIP-seq
MIRT2118693	hsa-miR-513c	CLIP-seq
MIRT2118694	hsa-miR-514b-5p	CLIP-seq
MIRT2634738	hsa-miR-532-3p	CLIP-seq
MIRT2634739	hsa-miR-532-5p	CLIP-seq
MIRT2634740	hsa-miR-543	CLIP-seq
MIRT1395659	hsa-miR-548a-3p	CLIP-seq
MIRT2634741	hsa-miR-548ac	CLIP-seq
MIRT2634742	hsa-miR-548ae	CLIP-seq
MIRT2634745	hsa-miR-548aj	CLIP-seq
MIRT2634746	hsa-miR-548am	CLIP-seq
MIRT2634747	hsa-miR-548d-3p	CLIP-seq
MIRT1395661	hsa-miR-548e	CLIP-seq
MIRT1395662	hsa-miR-548f	CLIP-seq
MIRT2634751	hsa-miR-548o	CLIP-seq
MIRT2634752	hsa-miR-548x	CLIP-seq
MIRT2634753	hsa-miR-548z	CLIP-seq
MIRT2634754	hsa-miR-562	CLIP-seq
MIRT2634755	hsa-miR-568	CLIP-seq
MIRT1395663	hsa-miR-570	CLIP-seq
MIRT2634756	hsa-miR-576-3p	CLIP-seq
MIRT2634758	hsa-miR-586	CLIP-seq
MIRT2634759	hsa-miR-590-3p	CLIP-seq
MIRT2634760	hsa-miR-598	CLIP-seq
MIRT2634761	hsa-miR-609	CLIP-seq
MIRT1395666	hsa-miR-656	CLIP-seq
MIRT2634762	hsa-miR-759	CLIP-seq
MIRT2634763	hsa-miR-892a	CLIP-seq
MIRT1395667	hsa-miR-935	CLIP-seq
MIRT2634764	hsa-miR-938	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Activation	17374731
CIITA	Unknown	12052885
CREB5	Repression	21132541
EGF	Unknown	11939722
GTF3A	Unknown	12364590
MCM5	Unknown	11248027
NR3C1	Repression	17016446
PIAS1	Unknown	17940994;19136629
RELA	Unknown	25040843
REST	Repression	23598529
STAT2	Unknown	21498520
STAT3	Activation	22693070
STAT6	Repression	19440213
TP53	Unknown	12364590

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IDA	18035482
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	18035482, 21268089
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	23386060, 28753426
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21268089
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	16585190
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	ISS
GO:0002230	Process	Positive regulation of defense response to virus by host	IGI	26479788
GO:0002230	Process	Positive regulation of defense response to virus by host	IMP	26479788
GO:0003340	Process	Negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS
GO:0003690	Function	Double-stranded DNA binding	IDA	9630226
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10973496, 23386060
GO:0005164	Function	Tumor necrosis factor receptor binding	IPI	10848577
GO:0005515	Function	Protein binding	IPI	8156998, 8605877, 8662591, 9121453, 9881977, 10848577, 11238845, 12070153, 12788789, 12867595, 15780933, 15825084, 16189514, 16273093, 16306601, 16531398, 16940534, 17275127, 17596301, 17923090, 20195357, 21903422, 21988832, 24065129, 24360797, 24658140, 25241761, 25416956, 25609649
GO:0005634	Component	Nucleus	IDA	10692450, 10973496, 15825084, 16306601, 21268089, 23386060, 28753426
GO:0005634	Component	Nucleus	IDA	26479788
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	10692450, 10973496, 15825084, 17275127, 23386060, 26479788, 27796300, 28753426
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006952	Process	Defense response	IBA	21873635
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	TAS
GO:0007259	Process	Receptor signaling pathway via JAK-STAT	IBA	21873635
GO:0007259	Process	Receptor signaling pathway via JAK-STAT	IDA	22002246
GO:0008015	Process	Blood circulation	ISS
GO:0010742	Process	Macrophage derived foam cell differentiation	IDA	26504087
GO:0016032	Process	Viral process	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IMP	16585190
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019899	Function	Enzyme binding	IPI	22002246, 26479788
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	28753426
GO:0032991	Component	Protein-containing complex	IDA	26479788
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	10848577
GO:0034097	Process	Response to cytokine	ISS
GO:0035035	Function	Histone acetyltransferase binding	IPI	26479788
GO:0035257	Function	Nuclear hormone receptor binding	IPI	26504087
GO:0035456	Process	Response to interferon-beta	IMP	24882218
GO:0035458	Process	Cellular response to interferon-beta	IMP	18035482
GO:0038113	Process	Interleukin-9-mediated signaling pathway	TAS
GO:0038114	Process	Interleukin-21-mediated signaling pathway	TAS
GO:0042127	Process	Regulation of cell population proliferation	IBA	21873635
GO:0042393	Function	Histone binding	IPI	26479788
GO:0042802	Function	Identical protein binding	IPI	8605877, 9630226
GO:0042803	Function	Protein homodimerization activity	IDA	9630226, 28753426
GO:0042981	Process	Regulation of apoptotic process	TAS	12108949
GO:0043124	Process	Negative regulation of I-kappaB kinase/NF-kappaB signaling	IMP	10848577
GO:0043434	Process	Response to peptide hormone	IBA	21873635
GO:0043434	Process	Response to peptide hormone	ISS
GO:0043542	Process	Endothelial cell migration	IMP	16585190
GO:0044389	Function	Ubiquitin-like protein ligase binding	IPI	26479788
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IMP	28283061
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	10973496
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IGI	26479788
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	26479788
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18035482
GO:0046725	Process	Negative regulation by virus of viral protein levels in host cell	IMP	15825084
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17275127
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS
GO:0051591	Process	Response to cAMP	ISS
GO:0051607	Process	Defense response to virus	IDA	28753426
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	IDA	21268089
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	IMP	26479788
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	ISS
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0060334	Process	Regulation of interferon-gamma-mediated signaling pathway	TAS
GO:0060337	Process	Type I interferon signaling pathway	IBA	21873635
GO:0060337	Process	Type I interferon signaling pathway	IDA	23386060
GO:0060337	Process	Type I interferon signaling pathway	ISS
GO:0060337	Process	Type I interferon signaling pathway	TAS
GO:0061326	Process	Renal tubule development	IMP	20861313
GO:0070102	Process	Interleukin-6-mediated signaling pathway	TAS
GO:0070106	Process	Interleukin-27-mediated signaling pathway	TAS
GO:0070491	Function	Repressing transcription factor binding	IPI	23386060
GO:0070757	Process	Interleukin-35-mediated signaling pathway	TAS
GO:0071346	Process	Cellular response to interferon-gamma	IDA	23386060
GO:0072136	Process	Metanephric mesenchymal cell proliferation involved in metanephros development	ISS
GO:0072162	Process	Metanephric mesenchymal cell differentiation	ISS
GO:0072308	Process	Negative regulation of metanephric nephron tubule epithelial cell differentiation	ISS
GO:1990841	Function	Promoter-specific chromatin binding	IDA	26479788

Other IDs

• MIM: 600555
• HGNC: 11362
• e!Ensembl: ENSG00000115415

Protein

• UniProt ID: P42224
• Protein name: Signal transducer and activator of transcription 1-alpha/beta (Transcription factor ISGF-3 components p91/p84)
• Protein function: Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors (PubMed:12764129, PubMed:12855578, PubMed:15322115, PubMed:23940278, PubMed:345
• PDB: 1BF5, 1YVL, 2KA6, 3WWT, 7NUF, 8D3F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02865	STAT_int	2 → 120	STAT protein, protein interaction domain	Domain
  PF01017	STAT_alpha	139 → 309	STAT protein, all-alpha domain	Family
  PF02864	STAT_bind	321 → 458	STAT protein, DNA binding domain	Domain
  PF00017	SH2	573 → 657	SH2 domain	Domain
  PF12162	STAT1_TAZ2bind	715 → 739	STAT1 TAZ2 binding domain	Motif

• Sequence:

  MSQWYELQQLDSKFLEQVHQLYDDSFPMEIRQYLAQWLEKQDWEHAANDVSFATIRFHDL
  LSQLDDQYSRFSLENNFLLQHNIRKSKRNLQDNFQEDPIQMSMIIYSCLKEERKILENAQ
  RFNQAQSGNIQSTVMLDKQKELDSKVRNVKDKVMCIEHEIKSLEDLQDEYDFKCKTLQNR
  EHETNGVAKSDQKQEQLLLKKMYLMLDNKRKEVVHKIIELLNVTELTQNALINDELVEWK
  RRQQSACIGGPPNACLDQLQNWFTIVAESLQQVRQQLKKLEELEQKYTYEHDPITKNKQV
  LWDRTFSLFQQLIQSSFVVERQPCMPTHPQRPLVLKTGVQFTVKLRLLVKLQELNYNLKV
  KVLFDKDVNERNTVKGFRKFNILGTHTKVMNMEESTNGSLAAEFRHLQLKEQKNAGTRTN
  EGPLIVTEELHSLSFETQLCQPGLVIDLETTSLPVVVISNVSQLPSGWASILWYNMLVAE
  PRNLSFFLTPPCARWAQLSEVLSWQFSSVTKRGLNVDQLNMLGEKLLGPNASPDGLIPWT
  RFCKENINDKNFPFWLWIESILELIKKHLLPLWNDGCIMGFISKERERALLKDQQPGTFL
  LRFSESSREGAITFTWVERSQNGGEPDFHAVEPYTKKELSAVTFPDIIRNYKVMAAENIP
  ENPLKYLYPNIDKDHAFGKYYSRPKEAPEPMELDGPKGTGYIKTELISVSEVHPSRLQTT
  DNLLPMSPEEFDEVSRIVGSVEFDSMMNTV

• Sequence length: 750

Pathways

KEGG:

Chemokine signaling pathway
Necroptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Prolactin signaling pathway
Thyroid hormone signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Leishmaniasis
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
Pancreatic cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease

Reactome:

Interleukin-6 signaling
ISG15 antiviral mechanism
Signaling by SCF-KIT
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
Interleukin-4 and Interleukin-13 signaling
Interferon gamma signaling
Regulation of IFNG signaling
Interleukin-20 family signaling
Interleukin-35 Signalling
Interleukin-9 signaling
NOTCH3 Intracellular Domain Regulates Transcription
Interleukin-27 signaling
Interleukin-21 signaling
Interferon alpha/beta signaling
Regulation of IFNA signaling
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Systemic onset juvenile chronic arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	23603761
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	26938784, 27117246
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Esophageal carcinoma	Esophageal carcinoma	rs121912967
Hypertension	Hypertension, Renovascular	rs13306026, rs13333226
Hypothyroidism	Hypothyroidism, Primary Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Immunodeficiency	IMMUNODEFICIENCY 31B, IMMUNODEFICIENCY 31A, Severe T-cell immunodeficiency	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	28258222, 22195034, 26604104, 21727188, 26242301, 23709754, 26938784, 26255980, 21714643, 25367169, 23541320, 22730530, 27114460, 27117246, 23403048, 23534974, 26494717, 26743090, 28597685, 29702748, 24343863, 12590259, 22847544, 20841510, 16934001, 29702748, 11452125, 23541320, 26255980, 22195034, 28258222, 26604104, 22573496, 21714643, 23709754, 24343863, 28597685, 26494717, 21727188, 22847544, 26743090, 22730530, 27114460, 25367169, 26242301
Lymphoblastic leukemia	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	23471820
Osteoporosis	Generalized osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Rheumatoid arthritis	Rheumatoid Arthritis, Rheumatoid Arthritis, Systemic Juvenile	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	12833524, 23603761
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	29702748

Unknown
Disease name	Disease term	dbSNP ID	References
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
Blood coagulation disorders	Blood Coagulation Disorders		27117246, 26938784
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Dwarfism	Dwarfism
Eczema	Eczema
Encephalitis	Encephalitis
Enterocolitis	Enterocolitis
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Impaired cognition	Impaired cognition
Liver carcinoma	Liver carcinoma		22488367
Liver cirrhosis	Liver Cirrhosis		17133483
Liver fibrosis	Fibrosis, Liver		17133483
Lymphopenia	Lymphopenia
Oligoarticular arthritis	Oligoarticular Juvenile Idiopathic Arthritis		23603761
Osteopenia	Osteopenia
Patent foramen ovale	Foramen Ovale, Patent
Pauciarticular chronic arthritis	Juvenile pauciarticular chronic arthritis		23603761
Seronegative polyarthritis	Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative		23603761
Biliary cirrhosis	Primary biliary cirrhosis		22936693
Renal artery stenosis	Renal Artery Stenosis
Oropharyngeal carcinoma	Squamous cell carcinoma of oropharynx
Still disease	Juvenile-Onset Still Disease		23603761
Thyroiditis	Thyroiditis