Variant report

Variant	rs8112646
Chromosome Location	chr19:23623777-23623778
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:23623720-23623870	SAEC	small airway:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
2	CTCF	chr19:23623700-23623850	GM12871	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
3	CTCF	chr19:23623700-23623850	HL-60	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
4	CTCF	chr19:23623700-23623850	AG09309	skin:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
5	CTCF	chr19:23623680-23623830	NHEK	skin:	n/a	n/a
6	CTCF	chr19:23623740-23623890	HVMF	connective:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
7	CTCF	chr19:23623680-23623830	GM12874	blood:	n/a	n/a
8	CTCF	chr19:23623660-23623810	NHLF	lung:	n/a	n/a
9	CTCF	chr19:23623720-23623870	GM12875	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
10	CTCF	chr19:23623700-23623850	GM12872	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
11	CTCF	chr19:23623740-23623890	HEEpiC	esophagus:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
12	CTCF	chr19:23623760-23623910	AoAF	blood vessel:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
13	CTCF	chr19:23623740-23623890	HCT-116	colon:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
14	CTCF	chr19:23623611-23623919	GM12878	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
15	CTCF	chr19:23623700-23623850	HPF	lung:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
16	CTCF	chr19:23623672-23623895	GM12891	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
17	CTCF	chr19:23623660-23623810	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr19:23623720-23623870	GM12868	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
19	CTCF	chr19:23623740-23623890	GM12865	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
20	TCF12	chr19:23623684-23623871	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr19:23623740-23623890	GM12867	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
22	CTCF	chr19:23623700-23623850	HBMEC	blood vessel:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
23	BHLHE40	chr19:23623769-23623831	HepG2	liver:	n/a	n/a
24	CTCF	chr19:23623740-23623890	GM12871	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
25	CTCF	chr19:23623702-23623875	MCF-7	breast:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
26	CTCF	chr19:23623720-23623870	HRPEpiC	eye:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
27	CTCF	chr19:23623700-23623850	HPAF	blood vessel:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
28	CTCF	chr19:23623680-23623830	HRE	kidney:	n/a	n/a
29	CTCF	chr19:23623680-23623830	GM12864	blood:	n/a	n/a
30	CTCF	chr19:23623700-23623850	GM12868	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
31	CTCF	chr19:23623740-23623890	SK-N-SH_RA	brain:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
32	CTCF	chr19:23623743-23623842	LNCaP	prostate:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
33	CTCF	chr19:23623684-23623861	GM12878	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
34	CTCF	chr19:23623680-23623830	AG04449	skin:	n/a	n/a
35	CTCF	chr19:23623685-23623888	K562	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
36	RAD21	chr19:23623692-23623909	HepG2	liver:	n/a	n/a
37	CTCF	chr19:23623675-23623910	H1-hESC	embryonic stem cell:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
38	CTCF	chr19:23623680-23623830	GM12878	blood:	n/a	n/a
39	CTCF	chr19:23623766-23623848	GM10266	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
40	CTCF	chr19:23623735-23623847	GM19239	blood:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
41	CTCF	chr19:23623720-23623870	HepG2	liver:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
42	CTCF	chr19:23623660-23623810	SAEC	small airway:	n/a	n/a
43	CTCF	chr19:23623693-23623882	MCF-7	breast:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
44	CTCF	chr19:23623693-23623855	SK-N-SH_RA	brain:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
45	CTCF	chr19:23623760-23623910	HCT-116	colon:	n/a	chr19:23623822-23623832 chr19:23623821-23623834
46	RAD21	chr19:23623505-23623917	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr19:23623660-23623810	GM12864	blood:	n/a	n/a
48	CTCF	chr19:23623680-23623830	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr19:23623680-23623830	GM12870	blood:	n/a	n/a
50	CTCF	chr19:23623740-23623890	HUVEC	blood vessel:	n/a	chr19:23623822-23623832 chr19:23623821-23623834

Variant related genes	Relation type
VN1R92P	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11085578	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11668802	1.00[ASN][1000 genomes]
rs11669071	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11672733	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs11673634	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12971750	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12971898	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972120	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973517	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976620	0.92[ASN][1000 genomes]
rs12977305	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12977982	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12978950	0.86[CEU][hapmap]
rs12980317	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs17490758	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs1826513	1.00[ASN][1000 genomes]
rs34614912	0.82[EUR][1000 genomes]
rs35032777	1.00[ASN][1000 genomes]
rs6511444	0.84[ASN][1000 genomes]
rs7245954	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7249300	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7249539	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7254865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258237	0.84[ASN][1000 genomes]
rs8103302	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs8108989	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111629	0.84[ASN][1000 genomes]
rs8112406	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34470	chr19:22922549-23659458	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
2	esv34907	chr19:22922549-23683097	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
3	nsv9686	chr19:22989454-23653750	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
4	esv3693269	chr19:23000745-23652839	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
5	esv2758491	chr19:23071299-23940467	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
6	nsv1065157	chr19:23091826-23812323	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
7	nsv543959	chr19:23091826-23812323	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
8	esv3382338	chr19:23476728-23631356	Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv3323302	chr19:23477342-23648545	ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3523857	chr19:23477614-23632199	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3523858	chr19:23477614-23632199	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	esv3334120	chr19:23545829-23837686	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv1064929	chr19:23559483-23827735	Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv1057474	chr19:23563612-23812441	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv543962	chr19:23563612-23812441	ZNF genes & repeats Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	esv3334156	chr19:23590778-23742435	Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1060263	chr19:23592291-23660609	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv1065071	chr19:23596756-23660609	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1057958	chr19:23596756-24159379	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
20	nsv543963	chr19:23596756-24159379	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
21	nsv931052	chr19:23610462-24133074	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
22	nsv1063705	chr19:23611683-24144829	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
23	nsv579047	chr19:23620632-24069443	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
24	nsv1058624	chr19:23620762-24071522	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
25	nsv543964	chr19:23620762-24071522	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
26	nsv1059279	chr19:23620873-24071154	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
27	nsv949038	chr19:23621540-24059150	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
28	nsv1061876	chr19:23621540-24071154	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

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Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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