Variant report

Variant	rs11759475
Chromosome Location	chr6:37786838-37786839
allele	A/C
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	NR2F2	chr6:37786027-37787401	K562	blood:	n/a	n/a
2	BCL3	chr6:37786404-37787103	A549	lung:	n/a	n/a
3	TAF1	chr6:37786468-37786927	GM12891	blood:	n/a	n/a
4	POLR2A	chr6:37786077-37787831	HUVEC	blood vessel:	n/a	n/a
5	ELK1	chr6:37786447-37787524	Hela-S3	cervix:	n/a	n/a
6	TAF1	chr6:37786569-37786859	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:37786119-37787790	MCF-7	breast:	n/a	n/a
8	SIX5	chr6:37786676-37787587	GM12878	blood:	n/a	n/a
9	REST	chr6:37786344-37787057	HL-60	blood:	n/a	chr6:37786733-37786743 chr6:37786894-37786907
10	ETS1	chr6:37786558-37786901	K562	blood:	n/a	chr6:37786777-37786787 chr6:37786777-37786788 chr6:37786779-37786788
11	IRF1	chr6:37786358-37787649	K562	blood:	n/a	chr6:37786654-37786663 chr6:37787221-37787235 chr6:37787490-37787504
12	POLR2A	chr6:37786064-37787589	HepG2	liver:	n/a	n/a
13	USF1	chr6:37786638-37787339	SK-N-SH_RA	brain:	n/a	chr6:37787322-37787338
14	BHLHE40	chr6:37786652-37787792	HepG2	liver:	n/a	chr6:37787322-37787338 chr6:37787530-37787546
15	TAF1	chr6:37786546-37786907	GM12892	blood:	n/a	n/a
16	EGR1	chr6:37786312-37787729	H1-hESC	embryonic stem cell:	n/a	chr6:37787495-37787508 chr6:37787495-37787508 chr6:37787217-37787230 chr6:37787219-37787229 chr6:37787494-37787509 chr6:37787496-37787506 chr6:37786779-37786788 chr6:37786841-37786850 chr6:37787217-37787230 chr6:37787216-37787231
17	SP4	chr6:37786443-37787615	H1-hESC	embryonic stem cell:	n/a	chr6:37787492-37787508 chr6:37787217-37787233
18	ELK1	chr6:37786557-37787437	GM12878	blood:	n/a	n/a
19	HMGN3	chr6:37786417-37787698	K562	blood:	n/a	n/a
20	TAF1	chr6:37786461-37787361	MCF-7	breast:	n/a	n/a
21	EP300	chr6:37786355-37787808	SK-N-SH	brain:	n/a	n/a
22	CHD2	chr6:37786430-37787655	HepG2	liver:	n/a	chr6:37787422-37787432
23	EP300	chr6:37786630-37787430	T-47D	breast:	n/a	n/a
24	FOXM1	chr6:37786352-37787508	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:37786081-37788324	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr6:37785988-37787482	HepG2	liver:	n/a	n/a
27	YY1	chr6:37786604-37787583	GM12891	blood:	n/a	chr6:37787242-37787256 chr6:37786840-37786854
28	RAD21	chr6:37786293-37786958	H1-hESC	embryonic stem cell:	n/a	chr6:37786729-37786743
29	HEY1	chr6:37785808-37787550	K562	blood:	n/a	chr6:37787324-37787339
30	TEAD4	chr6:37786078-37787593	K562	blood:	n/a	n/a
31	MYC	chr6:37786715-37787002	MCF-7	breast:	n/a	n/a
32	EP300	chr6:37786495-37787383	A549	lung:	n/a	n/a
33	E2F4	chr6:37786609-37787541	MCF10A-Er-Src	breast:	n/a	chr6:37787225-37787234 chr6:37787327-37787336 chr6:37786841-37786850
34	MBD4	chr6:37785768-37787246	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:37786170-37788308	GM15510	blood:	n/a	n/a
36	ZBTB7A	chr6:37786369-37787409	K562	blood:	n/a	n/a
37	ELF1	chr6:37786207-37787583	GM12878	blood:	n/a	chr6:37786779-37786790 chr6:37787322-37787334 chr6:37787287-37787299 chr6:37786780-37786789 chr6:37786779-37786790
38	ZNF143	chr6:37786673-37787444	Hela-S3	cervix:	n/a	chr6:37787327-37787337
39	SP1	chr6:37786594-37787604	GM12878	blood:	n/a	chr6:37787500-37787509 chr6:37787454-37787468 chr6:37787418-37787432 chr6:37787259-37787271 chr6:37787493-37787507 chr6:37787216-37787225 chr6:37787494-37787503 chr6:37787221-37787233 chr6:37787218-37787232 chr6:37786894-37786908 chr6:37787453-37787465 chr6:37787222-37787231 chr6:37787221-37787233 chr6:37787498-37787510 chr6:37787492-37787504 chr6:37787260-37787269 chr6:37787194-37787207 chr6:37787223-37787232
40	EP300	chr6:37786207-37787825	ECC-1	luminal epithelium:	n/a	n/a
41	HEY1	chr6:37786208-37787610	K562	blood:	n/a	chr6:37787324-37787339
42	POLR2A	chr6:37786253-37787692	K562	blood:	n/a	n/a
43	TEAD4	chr6:37785741-37787598	K562	blood:	n/a	n/a
44	TEAD4	chr6:37786433-37787677	ECC-1	luminal epithelium:	n/a	n/a
45	TAF1	chr6:37786337-37787732	K562	blood:	n/a	n/a
46	RCOR1	chr6:37786255-37787619	K562	blood:	n/a	n/a
47	POLR2A	chr6:37786247-37787693	K562	blood:	n/a	n/a
48	POLR2A	chr6:37786001-37787566	GM12878	blood:	n/a	n/a
49	MAX	chr6:37786277-37787764	MCF-7	breast:	n/a	n/a
50	POLR2A	chr6:37786042-37787681	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:37786462..37787543-chr7:25164251..25165338,4	Hela-S3	cervix:
2	chr6:3000100..3000642-chr6:37786474..37787182,2	NB4	blood:
3	chr6:37759272..37760030-chr6:37786003..37786959,2	K562	blood:
4	chr6:37764739..37766769-chr6:37785115..37786882,2	K562	blood:
5	chr17:56708595..56709357-chr6:37786295..37786946,2	Hela-S3	cervix:
6	chr11:101981348..101981850-chr6:37786295..37786967,2	Hela-S3	cervix:

Variant related genes	Relation type
ZFAND3	TF binding region
ENSG00000172115	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000124588	Chromatin interaction
ENSG00000137693	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1041037	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11750950	0.92[CEU][hapmap]
rs11751706	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11752567	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11752623	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11752650	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11752692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11752863	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11753118	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11753267	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11754247	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11754248	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11754590	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11754980	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11755559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11756030	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11757359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11758035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11758540	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs11759486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11759574	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11759721	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12661480	0.82[ASW][hapmap];0.92[CEU][hapmap]
rs55811006	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55837436	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56106114	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56159928	0.88[EUR][1000 genomes]
rs57040650	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57269218	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57591988	0.83[EUR][1000 genomes]
rs73417491	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73417502	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73419414	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73419417	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73419418	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419422	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419436	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419447	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419451	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419457	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419461	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419465	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419475	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73419487	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73421427	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73421433	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73421436	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73421439	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs752110	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3328154	chr6:37786599-37789347	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37784800-37789000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:37785400-37789200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:37785800-37788400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:37785800-37788400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:37785800-37788600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:37785800-37788600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:37785800-37788600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:37785800-37788600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:37785800-37788600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:37785800-37788800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:37785800-37788800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:37785800-37788800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:37785800-37788800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:37785800-37788800	Active TSS	A549	lung
15	chr6:37785800-37789000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:37785800-37789200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:37786000-37787000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:37786000-37788200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:37786000-37788400	Bivalent/Poised TSS	HepG2	liver
20	chr6:37786000-37788600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:37786000-37788600	Active TSS	NHDF-Ad	bronchial
22	chr6:37786000-37788800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:37786000-37788800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:37786000-37788800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr6:37786000-37788800	Active TSS	Fetal Muscle Trunk	muscle
26	chr6:37786000-37789000	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:37786000-37789200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:37786000-37789200	Active TSS	Fetal Intestine Large	intestine
29	chr6:37786000-37789200	Active TSS	Right Ventricle	heart
30	chr6:37786000-37789200	Active TSS	GM12878-XiMat	blood
31	chr6:37786000-37789800	Active TSS	Psoas Muscle	Psoas
32	chr6:37786000-37790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:37786200-37787400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:37786200-37788400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:37786200-37788400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:37786200-37788400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:37786200-37788400	Active TSS	Small Intestine	intestine
38	chr6:37786200-37788600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:37786200-37788600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:37786200-37788600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:37786200-37788600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:37786200-37788800	Active TSS	Colonic Mucosa	Colon
43	chr6:37786200-37788800	Active TSS	Esophagus	oesophagus
44	chr6:37786200-37788800	Active TSS	Left Ventricle	heart
45	chr6:37786200-37788800	Active TSS	Ovary	ovary
46	chr6:37786200-37788800	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr6:37786200-37789000	Active TSS	Aorta	Aorta
48	chr6:37786200-37789200	Active TSS	Pancreas	Pancrea
49	chr6:37786400-37787200	Active TSS	Fetal Heart	heart
50	chr6:37786400-37788200	Active TSS	Primary monocytes fromperipheralblood	blood

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