Variant report

Variant	rs10950862
Chromosome Location	chr7:21657572-21657573
allele	G/T
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	TCF7L2	chr7:21656659-21657916	HCT-116	colon:	n/a	n/a
2	NR3C1	chr7:21657405-21657959	A549	lung:	n/a	n/a
3	CEBPB	chr7:21657506-21657896	ECC-1	luminal epithelium:	n/a	chr7:21657673-21657684
4	BRCA1	chr7:21657508-21657916	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr7:21657272-21657988	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr7:21656616-21657890	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
7	SP1	chr7:21657220-21658165	A549	lung:	n/a	n/a
8	PBX3	chr7:21657420-21657861	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr7:21657474-21658493	HUVEC	blood vessel:	n/a	chr7:21658442-21658449 chr7:21658440-21658450 chr7:21658435-21658456 chr7:21658442-21658449 chr7:21658442-21658449 chr7:21658437-21658453 chr7:21658431-21658448 chr7:21658440-21658449
10	CEBPB	chr7:21656508-21658165	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
11	EP300	chr7:21657436-21657949	MCF-7	breast:	n/a	n/a
12	USF1	chr7:21657407-21657915	A549	lung:	n/a	n/a
13	MAX	chr7:21657394-21658000	A549	lung:	n/a	chr7:21657456-21657465
14	EP300	chr7:21657439-21657921	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr7:21657520-21658147	MCF10A-Er-Src	breast:	n/a	chr7:21657977-21657988
16	GATA3	chr7:21657422-21657958	T-47D	breast:	n/a	n/a
17	ZKSCAN1	chr7:21657460-21657866	Hela-S3	cervix:	n/a	n/a
18	FOSL2	chr7:21657455-21657848	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:21656472-21658046	Hela-S3	cervix:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
20	FOSL2	chr7:21657426-21657933	A549	lung:	n/a	n/a
21	GTF3C2	chr7:21657442-21657777	Hela-S3	cervix:	n/a	n/a
22	NR2F2	chr7:21657419-21657997	MCF-7	breast:	n/a	n/a
23	STAT3	chr7:21657503-21657914	Hela-S3	cervix:	n/a	n/a
24	FOS	chr7:21657533-21658055	Hela-S3	cervix:	n/a	n/a
25	ZBTB33	chr7:21657398-21657859	A549	lung:	n/a	n/a
26	GABPA	chr7:21657447-21657917	A549	lung:	n/a	n/a
27	FOXA2	chr7:21657483-21658064	A549	lung:	n/a	n/a
28	TCF12	chr7:21657452-21657867	A549	lung:	n/a	n/a
29	PBX3	chr7:21657375-21657881	A549	lung:	n/a	n/a
30	EP300	chr7:21656448-21658164	A549	lung:	n/a	chr7:21656857-21656866 chr7:21656785-21656799
31	MAX	chr7:21657444-21657972	MCF-7	breast:	n/a	chr7:21657456-21657465
32	MBD4	chr7:21657509-21657878	HepG2	liver:	n/a	n/a
33	FOS	chr7:21657391-21657887	MCF10A-Er-Src	breast:	n/a	n/a
34	GATA3	chr7:21656406-21658195	MCF-7	breast:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
35	CEBPB	chr7:21657457-21657857	HepG2	liver:	n/a	chr7:21657673-21657684
36	POLR2A	chr7:21657563-21657913	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr7:21656527-21658088	MCF-7	breast:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
38	NR3C1	chr7:21657416-21657921	A549	lung:	n/a	n/a
39	YY1	chr7:21657487-21657839	A549	lung:	n/a	n/a
40	SMARCC2	chr7:21656461-21657996	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr7:21657458-21657920	U87	brain:	n/a	n/a
42	TCF7L2	chr7:21656483-21657934	Hela-S3	cervix:	n/a	n/a
43	NR3C1	chr7:21657511-21657815	A549	lung:	n/a	n/a
44	JUN	chr7:21657474-21657921	Hela-S3	cervix:	n/a	n/a
45	JUND	chr7:21657561-21657828	HepG2	liver:	n/a	chr7:21657699-21657710
46	TCF12	chr7:21656415-21658238	A549	lung:	n/a	n/a
47	CEBPB	chr7:21657385-21657982	A549	lung:	n/a	chr7:21657673-21657684
48	EP300	chr7:21657391-21658045	A549	lung:	n/a	n/a
49	GATA3	chr7:21657392-21658041	A549	lung:	n/a	n/a
50	ZNF217	chr7:21657483-21657870	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
DNAH11	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10269582	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs12700287	1.00[JPT][hapmap]
rs13236023	1.00[JPT][hapmap]
rs6947026	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1030577	chr7:21548909-21681379	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025634	chr7:21566727-21686272	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10950862	OR52B4	trans	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21655800-21658200	Enhancers	HUVEC	blood vessel
2	chr7:21655800-21658600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:21656200-21657600	Weak transcription	Fetal Heart	heart
4	chr7:21656200-21658200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:21656200-21658200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:21656200-21658200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:21656200-21658600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:21656400-21658000	Enhancers	Pancreas	Pancrea
9	chr7:21656400-21658200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:21656400-21658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:21656400-21658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:21656400-21658200	Flanking Active TSS	A549	lung
13	chr7:21656400-21658200	Enhancers	NHEK	skin
14	chr7:21656400-21659000	Enhancers	Placenta	Placenta
15	chr7:21656400-21659000	Enhancers	HMEC	breast
16	chr7:21656600-21658000	Flanking Active TSS	Hela-S3	cervix
17	chr7:21656800-21657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:21657000-21657600	Flanking Active TSS	NH-A	brain
19	chr7:21657000-21658000	Enhancers	Fetal Intestine Large	intestine
20	chr7:21657000-21658200	Enhancers	HepG2	liver
21	chr7:21657000-21658200	Enhancers	NHDF-Ad	bronchial
22	chr7:21657000-21658600	Enhancers	Liver	Liver
23	chr7:21657000-21658600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:21657200-21657600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:21657200-21658000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:21657200-21658200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:21657200-21658200	Enhancers	Gastric	stomach

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