Variant report

Variant	rs8180768
Chromosome Location	chr7:21657185-21657186
allele	A/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	TCF7L2	chr7:21656659-21657916	HCT-116	colon:	n/a	n/a
2	JUND	chr7:21656500-21657199	MCF-7	breast:	n/a	chr7:21656857-21656867 chr7:21656858-21656866 chr7:21656859-21656866
3	MAX	chr7:21656706-21657199	MCF-7	breast:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
4	CEBPB	chr7:21656616-21657890	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
5	GATA3	chr7:21656527-21657205	MCF-7	breast:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
6	CEBPB	chr7:21656508-21658165	A549	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
7	TCF12	chr7:21656569-21657222	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr7:21656472-21658046	Hela-S3	cervix:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
9	EP300	chr7:21656448-21658164	A549	lung:	n/a	chr7:21656857-21656866 chr7:21656785-21656799
10	SP1	chr7:21656531-21657194	HCT-116	colon:	n/a	n/a
11	MAX	chr7:21656612-21657245	A549	lung:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
12	GATA3	chr7:21656406-21658195	MCF-7	breast:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
13	TEAD4	chr7:21656635-21657201	HCT-116	colon:	n/a	n/a
14	SP1	chr7:21656461-21657198	A549	lung:	n/a	n/a
15	CEBPB	chr7:21656527-21658088	MCF-7	breast:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799 chr7:21657673-21657684
16	SMARCC2	chr7:21656461-21657996	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr7:21656640-21657243	IMR90	lung:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799
18	TCF7L2	chr7:21656483-21657934	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr7:21656415-21658238	A549	lung:	n/a	n/a
20	SP1	chr7:21656538-21657231	HCT-116	colon:	n/a	n/a
21	GATA3	chr7:21656387-21658177	A549	lung:	n/a	chr7:21656890-21656897 chr7:21656888-21656904
22	BRCA1	chr7:21656609-21657275	Hela-S3	cervix:	n/a	n/a
23	MYC	chr7:21656670-21657214	MCF10A-Er-Src	breast:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
24	ATF3	chr7:21656635-21657201	HCT-116	colon:	n/a	n/a
25	RAD21	chr7:21656466-21657940	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr7:21656481-21657231	MCF-7	breast:	n/a	n/a
27	MAX	chr7:21656547-21658249	A549	lung:	n/a	chr7:21656858-21656867 chr7:21657456-21657465 chr7:21656857-21656866 chr7:21656788-21656797
28	JUND	chr7:21656432-21657888	Hela-S3	cervix:	n/a	chr7:21656857-21656867 chr7:21657699-21657710 chr7:21656858-21656866 chr7:21656859-21656866
29	JUN	chr7:21656644-21657187	Hela-S3	cervix:	n/a	chr7:21656857-21656867 chr7:21656858-21656866 chr7:21656859-21656866
30	POLR2A	chr7:21656581-21657212	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr7:21656526-21657207	MCF10A-Er-Src	breast:	n/a	chr7:21656857-21656867 chr7:21656856-21656867 chr7:21656858-21656866 chr7:21656859-21656866
32	MAX	chr7:21656634-21657204	HCT-116	colon:	n/a	chr7:21656858-21656867 chr7:21656857-21656866 chr7:21656788-21656797
33	POLR2A	chr7:21656986-21657186	MCF10A-Er-Src	breast:	n/a	n/a
34	FOSL2	chr7:21656487-21658101	A549	lung:	n/a	chr7:21656857-21656867 chr7:21656858-21656866 chr7:21656859-21656866
35	RCOR1	chr7:21656480-21657186	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr7:21656532-21657218	HCT-116	colon:	n/a	chr7:21657146-21657159 chr7:21656787-21656800 chr7:21656788-21656799
37	SP1	chr7:21656502-21657243	A549	lung:	n/a	n/a
38	EP300	chr7:21656509-21657307	A549	lung:	n/a	chr7:21656857-21656866 chr7:21656785-21656799
39	SMARCC1	chr7:21656408-21658121	Hela-S3	cervix:	n/a	n/a
40	USF2	chr7:21656755-21657913	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr7:21656468-21658269	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
DNAH11	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10499531	1.00[CEU][hapmap];0.83[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11765753	0.91[CEU][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs11766011	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11768411	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11768728	0.91[CEU][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs11773760	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11978567	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12666258	0.91[MEX][hapmap];0.80[TSI][hapmap]
rs12667349	0.84[MEX][hapmap]
rs12668100	0.84[MEX][hapmap]
rs12669590	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12670130	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs12673164	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17144781	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17745898	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35758178	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810898	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3827658	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs55844287	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55937657	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56106069	0.87[EUR][1000 genomes]
rs56214809	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62441680	0.87[EUR][1000 genomes]
rs62441682	0.85[EUR][1000 genomes]
rs62441683	0.87[EUR][1000 genomes]
rs62441720	0.85[EUR][1000 genomes]
rs62441726	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62447775	0.83[AMR][1000 genomes]
rs62447776	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62447777	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62447778	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62447780	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62447782	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6461585	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6461587	0.87[CHB][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6959279	0.86[LWK][hapmap]
rs6977909	0.84[MEX][hapmap]
rs73070433	0.84[EUR][1000 genomes]
rs7788355	0.84[MEX][hapmap]
rs7788995	0.91[CEU][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs7797362	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7803297	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs7805701	0.88[EUR][1000 genomes]
rs7809703	0.91[CEU][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs8180773	0.81[CHB][hapmap]
rs9638787	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9639381	0.89[CEU][hapmap];0.93[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9639383	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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:26 , 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	chr7:21656400-21657200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:21656400-21658000	Enhancers	Pancreas	Pancrea
10	chr7:21656400-21658200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:21656400-21658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:21656400-21658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:21656400-21658200	Flanking Active TSS	A549	lung
14	chr7:21656400-21658200	Enhancers	NHEK	skin
15	chr7:21656400-21659000	Enhancers	Placenta	Placenta
16	chr7:21656400-21659000	Enhancers	HMEC	breast
17	chr7:21656600-21658000	Flanking Active TSS	Hela-S3	cervix
18	chr7:21656800-21657400	Enhancers	NHLF	lung
19	chr7:21656800-21657800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:21657000-21657400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:21657000-21657600	Flanking Active TSS	NH-A	brain
22	chr7:21657000-21658000	Enhancers	Fetal Intestine Large	intestine
23	chr7:21657000-21658200	Enhancers	HepG2	liver
24	chr7:21657000-21658200	Enhancers	NHDF-Ad	bronchial
25	chr7:21657000-21658600	Enhancers	Liver	Liver
26	chr7:21657000-21658600	Enhancers	Placenta Amnion	Placenta Amnion

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