CTCF (CCCTC-binding factor)

Gene

• Entrez ID: 10664
• Gene name: CCCTC-binding factor
• Gene symbol: CTCF
• Synonyms: CFAP108, FAP108, MRD21
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA tar

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200677445	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs879255516	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255570	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs879255571	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886039600	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886041901	GTTCT>-	Pathogenic	Stop gained, coding sequence variant
rs886041997	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1064796062	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691283	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555534067	C>A,T	Pathogenic	Stop gained, intron variant, synonymous variant, coding sequence variant
rs1555534093	->GA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555534147	GAAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555534189	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555535156	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555535157	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555535739	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555536759	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567608876	AAAA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1567609067	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1597718106	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597725291	C>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024342	hsa-miR-215-5p	Microarray	19074876
MIRT026312	hsa-miR-192-5p	Microarray	19074876
MIRT030430	hsa-miR-24-3p	Microarray	19748357
MIRT052311	hsa-let-7b-5p	CLASH	23622248
MIRT040249	hsa-miR-615-3p	CLASH	23622248
MIRT036336	hsa-miR-1229-3p	CLASH	23622248
MIRT054355	hsa-miR-221-3p	Luciferase reporter assay, QRTPCR, Western blot	23630541
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT075141	hsa-miR-3662	PAR-CLIP	20371350
MIRT564287	hsa-miR-1322	PAR-CLIP	20371350
MIRT564286	hsa-miR-4307	PAR-CLIP	20371350
MIRT284694	hsa-miR-8088	PAR-CLIP	20371350
MIRT564285	hsa-miR-3140-3p	PAR-CLIP	20371350
MIRT284689	hsa-miR-567	PAR-CLIP	20371350
MIRT284693	hsa-miR-6740-5p	PAR-CLIP	20371350
MIRT284692	hsa-miR-4798-5p	PAR-CLIP	20371350
MIRT913905	hsa-miR-105	CLIP-seq
MIRT913906	hsa-miR-1206	CLIP-seq
MIRT913907	hsa-miR-1237	CLIP-seq
MIRT913908	hsa-miR-129-5p	CLIP-seq
MIRT913909	hsa-miR-149	CLIP-seq
MIRT913910	hsa-miR-19a	CLIP-seq
MIRT913911	hsa-miR-19b	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913915	hsa-miR-300	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT913919	hsa-miR-3607-5p	CLIP-seq
MIRT913920	hsa-miR-3620	CLIP-seq
MIRT913921	hsa-miR-3671	CLIP-seq
MIRT913922	hsa-miR-381	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913925	hsa-miR-4263	CLIP-seq
MIRT913926	hsa-miR-4417	CLIP-seq
MIRT913927	hsa-miR-4645-3p	CLIP-seq
MIRT913928	hsa-miR-4666-3p	CLIP-seq
MIRT913929	hsa-miR-4696	CLIP-seq
MIRT913930	hsa-miR-4699-5p	CLIP-seq
MIRT913931	hsa-miR-4709-3p	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT913933	hsa-miR-4718	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT913935	hsa-miR-4789-5p	CLIP-seq
MIRT913936	hsa-miR-576-5p	CLIP-seq
MIRT913937	hsa-miR-607	CLIP-seq
MIRT913938	hsa-miR-624	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT913940	hsa-miR-944	CLIP-seq
MIRT913906	hsa-miR-1206	CLIP-seq
MIRT913908	hsa-miR-129-5p	CLIP-seq
MIRT913941	hsa-miR-1301	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT913910	hsa-miR-19a	CLIP-seq
MIRT913911	hsa-miR-19b	CLIP-seq
MIRT913943	hsa-miR-203	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913947	hsa-miR-2467-5p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT913949	hsa-miR-3188	CLIP-seq
MIRT913950	hsa-miR-345	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT913919	hsa-miR-3607-5p	CLIP-seq
MIRT913951	hsa-miR-3650	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913953	hsa-miR-3942-5p	CLIP-seq
MIRT913954	hsa-miR-3944-5p	CLIP-seq
MIRT913955	hsa-miR-3975	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913957	hsa-miR-4432	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT913960	hsa-miR-4495	CLIP-seq
MIRT913961	hsa-miR-4496	CLIP-seq
MIRT913962	hsa-miR-4499	CLIP-seq
MIRT913963	hsa-miR-4501	CLIP-seq
MIRT913964	hsa-miR-4504	CLIP-seq
MIRT913927	hsa-miR-4645-3p	CLIP-seq
MIRT913965	hsa-miR-4649-3p	CLIP-seq
MIRT913966	hsa-miR-4660	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913929	hsa-miR-4696	CLIP-seq
MIRT913968	hsa-miR-4698	CLIP-seq
MIRT913969	hsa-miR-4699-3p	CLIP-seq
MIRT913930	hsa-miR-4699-5p	CLIP-seq
MIRT913970	hsa-miR-4703-5p	CLIP-seq
MIRT913931	hsa-miR-4709-3p	CLIP-seq
MIRT913971	hsa-miR-4711-5p	CLIP-seq
MIRT913972	hsa-miR-4714-3p	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT913933	hsa-miR-4718	CLIP-seq
MIRT913973	hsa-miR-4781-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT913975	hsa-miR-485-5p	CLIP-seq
MIRT913976	hsa-miR-499-5p	CLIP-seq
MIRT913977	hsa-miR-5047	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT913979	hsa-miR-5095	CLIP-seq
MIRT913980	hsa-miR-542-3p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT913982	hsa-miR-548ad	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913986	hsa-miR-552	CLIP-seq
MIRT913987	hsa-miR-556-3p	CLIP-seq
MIRT913988	hsa-miR-586	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT913990	hsa-miR-591	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq
MIRT913992	hsa-miR-760	CLIP-seq
MIRT913993	hsa-miR-885-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT1922673	hsa-miR-2355-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT1971053	hsa-miR-122	CLIP-seq
MIRT1971054	hsa-miR-1266	CLIP-seq
MIRT1971055	hsa-miR-128	CLIP-seq
MIRT1971056	hsa-miR-1299	CLIP-seq
MIRT1971057	hsa-miR-1321	CLIP-seq
MIRT1971058	hsa-miR-1324	CLIP-seq
MIRT1971059	hsa-miR-140-3p	CLIP-seq
MIRT1971060	hsa-miR-140-5p	CLIP-seq
MIRT1971061	hsa-miR-141	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT1971062	hsa-miR-200a	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT913947	hsa-miR-2467-5p	CLIP-seq
MIRT1971063	hsa-miR-27a	CLIP-seq
MIRT1971064	hsa-miR-27b	CLIP-seq
MIRT1971065	hsa-miR-299-5p	CLIP-seq
MIRT1971066	hsa-miR-3065-3p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT1971067	hsa-miR-3168	CLIP-seq
MIRT913949	hsa-miR-3188	CLIP-seq
MIRT1971068	hsa-miR-34a	CLIP-seq
MIRT1971069	hsa-miR-34c-5p	CLIP-seq
MIRT1971070	hsa-miR-3545-5p	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT1971071	hsa-miR-362-5p	CLIP-seq
MIRT1971072	hsa-miR-3909	CLIP-seq
MIRT913955	hsa-miR-3975	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT1971073	hsa-miR-433	CLIP-seq
MIRT1971074	hsa-miR-4419a	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT1971075	hsa-miR-4456	CLIP-seq
MIRT913961	hsa-miR-4496	CLIP-seq
MIRT1971076	hsa-miR-449a	CLIP-seq
MIRT1971077	hsa-miR-449b	CLIP-seq
MIRT1971078	hsa-miR-4510	CLIP-seq
MIRT1971079	hsa-miR-4518	CLIP-seq
MIRT1971080	hsa-miR-4527	CLIP-seq
MIRT1971081	hsa-miR-4639-5p	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT1971082	hsa-miR-4717-3p	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT1971083	hsa-miR-4728-5p	CLIP-seq
MIRT1971084	hsa-miR-4739	CLIP-seq
MIRT1971085	hsa-miR-4756-5p	CLIP-seq
MIRT1971086	hsa-miR-4769-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT1971087	hsa-miR-4782-5p	CLIP-seq
MIRT1971088	hsa-miR-4793-5p	CLIP-seq
MIRT1971089	hsa-miR-4802-3p	CLIP-seq
MIRT1971090	hsa-miR-4802-5p	CLIP-seq
MIRT913975	hsa-miR-485-5p	CLIP-seq
MIRT1971091	hsa-miR-500b	CLIP-seq
MIRT1971092	hsa-miR-502-5p	CLIP-seq
MIRT1971093	hsa-miR-505	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT1971094	hsa-miR-513a-5p	CLIP-seq
MIRT1971095	hsa-miR-516b	CLIP-seq
MIRT1971096	hsa-miR-517b	CLIP-seq
MIRT1971097	hsa-miR-541	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913982	hsa-miR-548ad	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913987	hsa-miR-556-3p	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT1971100	hsa-miR-640	CLIP-seq
MIRT1971101	hsa-miR-654-5p	CLIP-seq
MIRT2206776	hsa-miR-101	CLIP-seq
MIRT1971054	hsa-miR-1266	CLIP-seq
MIRT2206777	hsa-miR-1273	CLIP-seq
MIRT2206778	hsa-miR-1305	CLIP-seq
MIRT1971057	hsa-miR-1321	CLIP-seq
MIRT1971058	hsa-miR-1324	CLIP-seq
MIRT1971059	hsa-miR-140-3p	CLIP-seq
MIRT1971060	hsa-miR-140-5p	CLIP-seq
MIRT913942	hsa-miR-1468	CLIP-seq
MIRT913944	hsa-miR-219-5p	CLIP-seq
MIRT913945	hsa-miR-221	CLIP-seq
MIRT913946	hsa-miR-222	CLIP-seq
MIRT1922673	hsa-miR-2355-5p	CLIP-seq
MIRT913912	hsa-miR-23a	CLIP-seq
MIRT913913	hsa-miR-23b	CLIP-seq
MIRT913914	hsa-miR-23c	CLIP-seq
MIRT1971065	hsa-miR-299-5p	CLIP-seq
MIRT913916	hsa-miR-3120-3p	CLIP-seq
MIRT1971067	hsa-miR-3168	CLIP-seq
MIRT913917	hsa-miR-34b	CLIP-seq
MIRT913918	hsa-miR-3605-3p	CLIP-seq
MIRT2206779	hsa-miR-377	CLIP-seq
MIRT913923	hsa-miR-3977	CLIP-seq
MIRT913924	hsa-miR-4259	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT1971074	hsa-miR-4419a	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913959	hsa-miR-4445	CLIP-seq
MIRT2206780	hsa-miR-4457	CLIP-seq
MIRT1971078	hsa-miR-4510	CLIP-seq
MIRT1971079	hsa-miR-4518	CLIP-seq
MIRT1971081	hsa-miR-4639-5p	CLIP-seq
MIRT913968	hsa-miR-4698	CLIP-seq
MIRT913932	hsa-miR-4715-5p	CLIP-seq
MIRT1971082	hsa-miR-4717-3p	CLIP-seq
MIRT913934	hsa-miR-4727-5p	CLIP-seq
MIRT1971083	hsa-miR-4728-5p	CLIP-seq
MIRT1971084	hsa-miR-4739	CLIP-seq
MIRT1971085	hsa-miR-4756-5p	CLIP-seq
MIRT913973	hsa-miR-4781-3p	CLIP-seq
MIRT913974	hsa-miR-4782-3p	CLIP-seq
MIRT2206781	hsa-miR-4797-5p	CLIP-seq
MIRT1971089	hsa-miR-4802-3p	CLIP-seq
MIRT1971090	hsa-miR-4802-5p	CLIP-seq
MIRT913978	hsa-miR-508-3p	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913985	hsa-miR-548v	CLIP-seq
MIRT913989	hsa-miR-587	CLIP-seq
MIRT1971100	hsa-miR-640	CLIP-seq
MIRT913993	hsa-miR-885-5p	CLIP-seq
MIRT913939	hsa-miR-936	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT1971098	hsa-miR-543	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT2510099	hsa-miR-3613-3p	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT2510100	hsa-miR-548ac	CLIP-seq
MIRT2510101	hsa-miR-548ae	CLIP-seq
MIRT2510102	hsa-miR-548aj	CLIP-seq
MIRT2510103	hsa-miR-548am	CLIP-seq
MIRT2510104	hsa-miR-548d-3p	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT2510105	hsa-miR-548x	CLIP-seq
MIRT2510106	hsa-miR-548z	CLIP-seq
MIRT913988	hsa-miR-586	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq
MIRT2510107	hsa-miR-635	CLIP-seq
MIRT913948	hsa-miR-3145-5p	CLIP-seq
MIRT2510099	hsa-miR-3613-3p	CLIP-seq
MIRT913952	hsa-miR-3667-3p	CLIP-seq
MIRT913956	hsa-miR-4270	CLIP-seq
MIRT913958	hsa-miR-4441	CLIP-seq
MIRT913967	hsa-miR-4668-5p	CLIP-seq
MIRT913981	hsa-miR-548a-3p	CLIP-seq
MIRT913983	hsa-miR-548e	CLIP-seq
MIRT913984	hsa-miR-548f	CLIP-seq
MIRT1971099	hsa-miR-548p	CLIP-seq
MIRT913991	hsa-miR-618	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BCL3	Repression	21912613
FOXH1	Unknown	19956589
NFKB1	Repression	21912613
WT1	Unknown	24534946
YY1	Activation	9756895

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	8649389
GO:0000775	Component	Chromosome, centromeric region	IDA	18550811, 26321640
GO:0000793	Component	Condensed chromosome	IDA	16107875
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	18413740
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	8649389
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	8649389
GO:0003700	Function	DNA-binding transcription factor activity	IBA	21873635
GO:0003700	Function	DNA-binding transcription factor activity	IDA	8649389, 9591631
GO:0005515	Function	Protein binding	IPI	19505873, 19536159, 24725430, 24937458, 25416956, 26321640, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	9407128, 28319062
GO:0005654	Component	Nucleoplasm	IDA	16107875, 16595548
GO:0005730	Component	Nucleolus	IDA	16595548
GO:0006306	Process	DNA methylation	IEA
GO:0006349	Process	Regulation of gene expression by genetic imprinting	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007059	Process	Chromosome segregation	IEA
GO:0008270	Function	Zinc ion binding	TAS	8649389
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	28319062
GO:0010216	Process	Maintenance of DNA methylation	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	18347100
GO:0016584	Process	Nucleosome positioning	IDA	18654629
GO:0031060	Process	Regulation of histone methylation	IEA
GO:0035065	Process	Regulation of histone acetylation	IEA
GO:0040029	Process	Regulation of gene expression, epigenetic	IBA	21873635
GO:0040029	Process	Regulation of gene expression, epigenetic	IMP	16815976
GO:0040030	Process	Regulation of molecular function, epigenetic	IMP	16815976
GO:0043035	Function	Chromatin insulator sequence binding	IBA	21873635
GO:0043035	Function	Chromatin insulator sequence binding	IDA	17827499
GO:0043565	Function	Sequence-specific DNA binding	IDA	17827499
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	8649389, 18413740
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	9407128
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	19322193
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	NAS	18550811
GO:0071459	Process	Protein localization to chromosome, centromeric region	IMP	26321640
GO:0071514	Process	Genetic imprinting	IDA	17827499

Other IDs

• MIM: 604167
• HGNC: 13723
• e!Ensembl: ENSG00000102974

Protein

• UniProt ID: P49711
• Protein name: Transcriptional repressor CTCF (11-zinc finger protein) (CCCTC-binding factor) (CTCFL paralog)
• Protein function: Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin (PubMed:18347100, PubMed:18654629, PubMed:19322193). Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to c
• PDB: 1X6H, 2CT1, 5K5H, 5K5I, 5K5J, 5K5L, 5KKQ, 5T00, 5T0U, 5UND, 5YEF, 5YEG, 5YEH, 5YEL, 6QNX, 7W1M, 8SSQ, 8SSR, 8SSS, 8SST, 8SSU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	266 → 288	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	294 → 316	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	322 → 345	Zinc finger, C2H2 type	Domain
  PF13909	zf-H2C2_5	351 → 375		Domain
  PF00096	zf-C2H2	379 → 401	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	437 → 460	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	555 → 575	Zinc finger, C2H2 type	Domain

• Sequence:

  MEGDAVEAIVEESETFIKGKERKTYQRRREGGQEEDACHLPQNQTDGGEVVQDVNSSVQM
  VMMEQLDPTLLQMKTEVMEGTVAPEAEAAVDDTQIITLQVVNMEEQPINIGELQLVQVPV
  PVTVPVATTSVEELQGAYENEVSKEGLAESEPMICHTLPLPEGFQVVKVGANGEVETLEQ
  GELPPQEDPSWQKDPDYQPPAKKTKKTKKSKLRYTEEGKDVDVSVYDFEEEQQEGLLSEV
  NAEKVVGNMKPPKPTKIKKKGVKKTFQCELCSYTCPRRSNLDRHMKSHTDERPHKCHLCG
  RAFRTVTLLRNHLNTHTGTRPHKCPDCDMAFVTSGELVRHRRYKHTHEKPFKCSMCDYAS
  VEVSKLKRHIRSHTGERPFQCSLCSYASRDTYKLKRHMRTHSGEKPYECYICHARFTQSG
  TMKMHILQKHTENVAKFHCPHCDTVIARKSDLGVHLRKQHSYIEQGKKCRYCDAVFHERY
  ALIQHQKSHKNEKRFKCDQCDYACRQERHMIMHKRTHTGEKPYACSHCDKTFRQKQLLDM
  HFKRYHDPNFVPAAFVCSKCGKTFTRRNTMARHADNCAGPDGVEGENGGETKKSKRGRKR
  KMRSKKEDSSDSENAEPDLDDNEDEEEPAVEIEPEPEPQPVTPAPPPAKKRRGRPPGRTN
  QPKQNQPTAIIQVEDQNTGAIENIIVEVKKEPDAEPAEGEEEEAQPAATDAPNGDLTPEM
  ILSMMDR

• Sequence length: 727

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Leukemia, megakaryoblastic, of down syndrome	Leukemia, Megakaryoblastic, of Down Syndrome	rs398124627	24056718
Lymphoma	Lymphoma, T-Cell, Cutaneous	rs11540652, rs1592119138, rs1592123162, rs1599367044	26192916
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	28671688
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	23746550, 23874213, 23746550, 28619046, 28848059, 21725066, 22854024, 27880914
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	18654629, 19563753, 28619046, 22354838, 23746550, 28135719
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796
Neurodevelopmental disorders	CTCF-related neurodevelopmental disorder	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24901509

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		23746550, 18654629, 28619046, 22354838, 28135719, 19563753
Granulomatous slack skin	Granulomatous Slack Skin		26192916
Hyperopia	Hyperopia
Movement disorders	Movement Disorders		23746550, 28135719, 28619046, 22354838, 18654629, 19563753
Prostatic neoplasms	Prostatic Neoplasms
Strabismus	Strabismus