Variant report

Variant	rs56174340
Chromosome Location	chr7:21657706-21657707
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	MYC	chr7:21657699-21657721	HUVEC	blood vessel:	n/a	n/a
6	SMC3	chr7:21657272-21657988	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr7:21656616-21657890	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
8	SP1	chr7:21657220-21658165	A549	lung:	n/a	n/a
9	PBX3	chr7:21657420-21657861	SK-N-SH	brain:	n/a	n/a
10	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
11	CEBPB	chr7:21656508-21658165	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
12	EP300	chr7:21657436-21657949	MCF-7	breast:	n/a	n/a
13	USF1	chr7:21657407-21657915	A549	lung:	n/a	n/a
14	MAX	chr7:21657394-21658000	A549	lung:	n/a	chr7:21657456-21657465
15	EP300	chr7:21657439-21657921	Hela-S3	cervix:	n/a	n/a
16	STAT3	chr7:21657520-21658147	MCF10A-Er-Src	breast:	n/a	chr7:21657977-21657988
17	GATA3	chr7:21657422-21657958	T-47D	breast:	n/a	n/a
18	ZKSCAN1	chr7:21657460-21657866	Hela-S3	cervix:	n/a	n/a
19	FOSL2	chr7:21657455-21657848	HepG2	liver:	n/a	n/a
20	CEBPB	chr7:21656472-21658046	Hela-S3	cervix:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
21	FOSL2	chr7:21657426-21657933	A549	lung:	n/a	n/a
22	GTF3C2	chr7:21657442-21657777	Hela-S3	cervix:	n/a	n/a
23	NR2F2	chr7:21657419-21657997	MCF-7	breast:	n/a	n/a
24	STAT3	chr7:21657503-21657914	Hela-S3	cervix:	n/a	n/a
25	FOS	chr7:21657533-21658055	Hela-S3	cervix:	n/a	n/a
26	ZBTB33	chr7:21657398-21657859	A549	lung:	n/a	n/a
27	GABPA	chr7:21657447-21657917	A549	lung:	n/a	n/a
28	FOXA2	chr7:21657483-21658064	A549	lung:	n/a	n/a
29	TCF12	chr7:21657452-21657867	A549	lung:	n/a	n/a
30	PBX3	chr7:21657375-21657881	A549	lung:	n/a	n/a
31	EP300	chr7:21656448-21658164	A549	lung:	n/a	chr7:21656857-21656866 chr7:21656785-21656799
32	MAX	chr7:21657444-21657972	MCF-7	breast:	n/a	chr7:21657456-21657465
33	MBD4	chr7:21657509-21657878	HepG2	liver:	n/a	n/a
34	FOS	chr7:21657391-21657887	MCF10A-Er-Src	breast:	n/a	n/a
35	GATA3	chr7:21656406-21658195	MCF-7	breast:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
36	MAX	chr7:21657627-21657815	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr7:21657573-21657858	A549	lung:	n/a	n/a
38	MYC	chr7:21657575-21657810	MCF-7	breast:	n/a	n/a
39	CEBPB	chr7:21657457-21657857	HepG2	liver:	n/a	chr7:21657673-21657684
40	POLR2A	chr7:21657563-21657913	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr7:21656527-21658088	MCF-7	breast:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
42	NR3C1	chr7:21657416-21657921	A549	lung:	n/a	n/a
43	YY1	chr7:21657487-21657839	A549	lung:	n/a	n/a
44	SMARCC2	chr7:21656461-21657996	Hela-S3	cervix:	n/a	n/a
45	JUND	chr7:21657573-21657741	HepG2	liver:	n/a	chr7:21657699-21657710
46	POLR2A	chr7:21657458-21657920	U87	brain:	n/a	n/a
47	TCF7L2	chr7:21656483-21657934	Hela-S3	cervix:	n/a	n/a
48	NR3C1	chr7:21657511-21657815	A549	lung:	n/a	n/a
49	JUN	chr7:21657474-21657921	Hela-S3	cervix:	n/a	n/a
50	JUND	chr7:21657561-21657828	HepG2	liver:	n/a	chr7:21657699-21657710

Variant related genes	Relation type
DNAH11	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12539987	0.87[ASN][1000 genomes]
rs57208694	0.85[AMR][1000 genomes]
rs66490706	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs68184450	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7803642	0.81[ASN][1000 genomes]

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

No data

Chromatin state (count:29 , 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	chr7:21656200-21658200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:21656200-21658200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:21656200-21658200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:21656200-21658600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:21656400-21658000	Enhancers	Pancreas	Pancrea
8	chr7:21656400-21658200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:21656400-21658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:21656400-21658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:21656400-21658200	Flanking Active TSS	A549	lung
12	chr7:21656400-21658200	Enhancers	NHEK	skin
13	chr7:21656400-21659000	Enhancers	Placenta	Placenta
14	chr7:21656400-21659000	Enhancers	HMEC	breast
15	chr7:21656600-21658000	Flanking Active TSS	Hela-S3	cervix
16	chr7:21656800-21657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:21657000-21658000	Enhancers	Fetal Intestine Large	intestine
18	chr7:21657000-21658200	Enhancers	HepG2	liver
19	chr7:21657000-21658200	Enhancers	NHDF-Ad	bronchial
20	chr7:21657000-21658600	Enhancers	Liver	Liver
21	chr7:21657000-21658600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr7:21657200-21658000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:21657200-21658200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:21657200-21658200	Enhancers	Gastric	stomach
25	chr7:21657600-21658000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:21657600-21658200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:21657600-21658200	Enhancers	Fetal Heart	heart
28	chr7:21657600-21658200	Enhancers	Rectal Smooth Muscle	rectum
29	chr7:21657600-21658200	Enhancers	NH-A	brain

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