Variant report

Variant	rs6767619
Chromosome Location	chr3:156893782-156893783
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	MXI1	chr3:156892463-156894182	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:156893421-156893832	K562	blood:	n/a	n/a
3	POLR2A	chr3:156891834-156893851	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:156892060-156893832	PBDE	blood:	n/a	n/a
5	POLR2A	chr3:156891881-156893806	Raji	blood:	n/a	n/a
6	ZNF263	chr3:156893685-156894420	HEK293-T-REx	kidney:	n/a	chr3:156894063-156894084
7	MXI1	chr3:156891834-156895033	IMR90	lung:	n/a	n/a
8	POLR2A	chr3:156891581-156893850	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr3:156891894-156893831	K562	blood:	n/a	n/a
10	TCF7L2	chr3:156892159-156894170	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr3:156891606-156894394	SK-N-MC	brain:	n/a	n/a
12	TBL1XR1	chr3:156893697-156894013	K562	blood:	n/a	n/a
13	POLR2A	chr3:156891994-156894121	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr3:156891705-156893849	K562	blood:	n/a	n/a
15	MXI1	chr3:156891521-156894953	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr3:156891771-156894178	K562	blood:	n/a	n/a
17	STAT1	chr3:156892005-156893802	Hela-S3	cervix:	n/a	chr3:156892751-156892762 chr3:156893773-156893785 chr3:156892747-156892767 chr3:156892633-156892641 chr3:156892750-156892764
18	POLR2A	chr3:156891710-156894209	GM12878	blood:	n/a	n/a
19	PML	chr3:156891946-156894196	GM12878	blood:	n/a	n/a
20	POLR2A	chr3:156891642-156894205	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr3:156891716-156894206	GM12891	blood:	n/a	n/a
22	POLR2A	chr3:156891918-156893800	HepG2	liver:	n/a	n/a
23	POLR2A	chr3:156892010-156893790	K562	blood:	n/a	n/a
24	CHD1	chr3:156893771-156893833	H1-hESC	embryonic stem cell:	n/a	n/a
25	PRDM1	chr3:156892611-156893784	Hela-S3	cervix:	n/a	chr3:156893707-156893721 chr3:156893060-156893075 chr3:156893708-156893717
26	POLR2A	chr3:156891623-156893834	HCT-116	colon:	n/a	n/a
27	MAX	chr3:156892121-156893836	MCF-7	breast:	n/a	chr3:156892666-156892676
28	POLR2A	chr3:156891763-156893840	K562	blood:	n/a	n/a
29	SMC3	chr3:156892365-156893816	Hela-S3	cervix:	n/a	n/a
30	MTA3	chr3:156891667-156893992	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:156893500-156893793	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr3:156891715-156894302	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr3:156891865-156893923	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr3:156891784-156894152	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:156891903-156894217	GM12892	blood:	n/a	n/a
36	POLR2A	chr3:156893507-156893796	ECC-1	luminal epithelium:	n/a	n/a
37	HA-E2F1	chr3:156892086-156893785	MCF-7	breast:	n/a	chr3:156892791-156892805 chr3:156892824-156892833
38	POLR2A	chr3:156892389-156893875	HUVEC	blood vessel:	n/a	n/a
39	STAT5A	chr3:156892187-156893819	GM12878	blood:	n/a	chr3:156893773-156893785 chr3:156892747-156892767 chr3:156892633-156892641 chr3:156892750-156892764
40	E2F4	chr3:156893471-156893829	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr3:156891855-156894379	IMR90	lung:	n/a	n/a
42	TBP	chr3:156892376-156894023	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr3:156893617-156893784	MCF-7	breast:	n/a	n/a
44	POLR2A	chr3:156891848-156894273	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr3:156892103-156893801	GM12878	blood:	n/a	n/a
46	HCFC1	chr3:156891636-156894761	Hela-S3	cervix:	n/a	n/a
47	NFIC	chr3:156892296-156893861	GM12878	blood:	n/a	n/a
48	ZNF143	chr3:156892227-156893992	GM12878	blood:	n/a	chr3:156893317-156893336
49	TAF1	chr3:156893471-156893806	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAZ	chr3:156893562-156893813	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:156891687..156894320-chr3:157219306..157221888,3	MCF-7	breast:
2	chr3:156347077..156349787-chr3:156893431..156895606,2	K562	blood:
3	chr3:156877577..156878787-chr3:156892042..156894243,14	HCT-116	colon:
4	chr3:156271607..156273392-chr3:156891262..156894145,2	K562	blood:
5	chr3:156533499..156536526-chr3:156891417..156894235,3	MCF-7	breast:
6	chr3:156877328..156878086-chr3:156893490..156894026,2	MCF-7	breast:
7	chr19:22668311..22668965-chr3:156893491..156894131,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP146	TF binding region
ENSG00000163660	Chromatin interaction
ENSG00000114850	Chromatin interaction
ENSG00000197415	Chromatin interaction
ENSG00000240875	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10212545	0.83[EUR][1000 genomes]
rs10451871	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10451916	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1046938	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10513507	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1060543	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs10936063	0.82[CEU][hapmap]
rs10936066	0.82[CEU][hapmap]
rs1157738	0.91[CEU][hapmap]
rs11926167	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12488480	0.81[CEU][hapmap]
rs12492801	0.82[CEU][hapmap]
rs12496111	0.81[CEU][hapmap]
rs12629549	0.84[EUR][1000 genomes]
rs12633429	0.82[CEU][hapmap]
rs12637518	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12696045	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13061214	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13081036	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13081038	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13084070	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13084522	0.87[EUR][1000 genomes]
rs1392799	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1403103	0.86[EUR][1000 genomes]
rs1403104	0.91[CEU][hapmap]
rs1403106	0.82[CEU][hapmap]
rs1500925	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587534	0.80[EUR][1000 genomes]
rs1587535	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1608127	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16827308	0.91[CEU][hapmap];0.90[YRI][hapmap]
rs16827322	0.91[CEU][hapmap]
rs16827350	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16827384	0.85[EUR][1000 genomes]
rs1995304	0.83[CEU][hapmap]
rs2088814	0.84[EUR][1000 genomes]
rs2133952	0.84[EUR][1000 genomes]
rs2874616	0.82[CEU][hapmap]
rs35217153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3749214	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.86[EUR][1000 genomes]
rs3935750	0.82[CEU][hapmap]
rs4368452	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4383468	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563363	0.85[EUR][1000 genomes]
rs4632503	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4679788	0.89[CEU][hapmap]
rs4680340	0.82[CEU][hapmap]
rs4680342	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4680343	0.82[CEU][hapmap]
rs4680344	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680345	0.81[CEU][hapmap]
rs4680346	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4680347	0.95[CEU][hapmap]
rs4680348	0.80[EUR][1000 genomes]
rs4680352	0.82[CEU][hapmap]
rs5003893	0.82[CEU][hapmap]
rs6441114	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441115	0.82[CEU][hapmap]
rs6441116	0.82[CEU][hapmap]
rs6441121	0.85[EUR][1000 genomes]
rs6441122	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6441123	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67196056	0.81[EUR][1000 genomes]
rs6768074	0.83[CEU][hapmap]
rs6773061	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6780831	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6781991	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6783595	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6789178	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6805114	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6805989	0.82[CEU][hapmap]
rs6808284	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6808457	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6809003	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6809307	0.82[CEU][hapmap]
rs6809394	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7620178	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7621912	0.83[CEU][hapmap]
rs7625059	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7636185	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7638194	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7642179	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7647643	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648599	0.82[CEU][hapmap]
rs7652298	0.83[CEU][hapmap]
rs8925	0.82[CEU][hapmap]
rs9289978	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9289979	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9811195	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9827676	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9831830	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9838724	0.83[EUR][1000 genomes]
rs9848409	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9849168	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9858423	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9861469	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9867618	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 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	chr3:156891800-156893800	Active TSS	HSMMtube	muscle
2	chr3:156891800-156894000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr3:156891800-156894000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:156891800-156894000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr3:156891800-156894000	Active TSS	Fetal Brain Female	brain
6	chr3:156891800-156894200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr3:156891800-156894200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:156891800-156894400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:156891800-156894400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr3:156891800-156894400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr3:156891800-156894400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr3:156892000-156893800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:156892000-156893800	Active TSS	Placenta Amnion	Placenta Amnion
14	chr3:156892000-156894000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr3:156892000-156894000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:156892000-156894000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:156892000-156894000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:156892000-156894000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr3:156892000-156894000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:156892000-156894000	Active TSS	Aorta	Aorta
21	chr3:156892000-156894000	Active TSS	Liver	Liver
22	chr3:156892000-156894000	Active TSS	Colonic Mucosa	Colon
23	chr3:156892000-156894000	Active TSS	Esophagus	oesophagus
24	chr3:156892000-156894000	Active TSS	Fetal Intestine Large	intestine
25	chr3:156892000-156894000	Active TSS	Fetal Lung	lung
26	chr3:156892000-156894000	Active TSS	Left Ventricle	heart
27	chr3:156892000-156894000	Active TSS	Lung	lung
28	chr3:156892000-156894000	Active TSS	Pancreas	Pancrea
29	chr3:156892000-156894000	Active TSS	Psoas Muscle	Psoas
30	chr3:156892000-156894000	Active TSS	Thymus	Thymus
31	chr3:156892000-156894200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:156892000-156894200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr3:156892000-156894400	Active TSS	Brain Germinal Matrix	brain
34	chr3:156892000-156894400	Active TSS	Right Ventricle	heart
35	chr3:156892200-156893800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:156892200-156893800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr3:156892200-156893800	Active TSS	Brain Anterior Caudate	brain
38	chr3:156892200-156893800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr3:156892200-156893800	Active TSS	Fetal Kidney	kidney
40	chr3:156892200-156893800	Active TSS	Gastric	stomach
41	chr3:156892200-156893800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr3:156892200-156894000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:156892200-156894000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:156892200-156894000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:156892200-156894000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr3:156892200-156894000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:156892200-156894000	Active TSS	Colon Smooth Muscle	Colon
48	chr3:156892200-156894000	Active TSS	Fetal Heart	heart
49	chr3:156892200-156894000	Active TSS	Fetal Intestine Small	intestine
50	chr3:156892200-156894000	Active TSS	Fetal Muscle Leg	muscle

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