Variant report

Variant	rs6791805
Chromosome Location	chr3:23872052-23872053
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:23871355..23873742-chr3:23957412..23960417,3	MCF-7	breast:
2	chr3:23870792..23874280-chr3:23876265..23880497,5	K562	blood:
3	chr3:23870105..23874251-chr3:23876563..23879324,3	K562	blood:
4	chr3:23870938..23872774-chr3:23958768..23960542,2	K562	blood:
5	chr3:23865377..23868254-chr3:23870835..23872991,2	K562	blood:
6	chr3:23871538..23873491-chr3:23878847..23880848,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197885	Chromatin interaction
ENSG00000174748	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10084748	1.00[ASN][1000 genomes]
rs1037635	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11129128	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs13070128	1.00[ASN][1000 genomes]
rs13087250	1.00[ASN][1000 genomes]
rs13316457	1.00[ASN][1000 genomes]
rs13317815	0.83[MEX][hapmap]
rs1567579	1.00[ASN][1000 genomes]
rs1567580	1.00[ASN][1000 genomes]
rs28524116	1.00[ASN][1000 genomes]
rs34036067	1.00[ASN][1000 genomes]
rs34058540	1.00[ASN][1000 genomes]
rs34082882	1.00[ASN][1000 genomes]
rs34866549	1.00[ASN][1000 genomes]
rs34953164	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136361	1.00[ASN][1000 genomes]
rs35755171	1.00[ASN][1000 genomes]
rs35755253	1.00[ASN][1000 genomes]
rs36060625	0.85[EUR][1000 genomes]
rs36063721	1.00[ASN][1000 genomes]
rs36089963	1.00[ASN][1000 genomes]
rs3762775	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs3935253	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs4131404	1.00[ASN][1000 genomes]
rs4300960	1.00[ASN][1000 genomes]
rs4490300	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs4535169	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602333	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs4858096	1.00[ASN][1000 genomes]
rs4858554	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4858556	1.00[ASN][1000 genomes]
rs4858564	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs55932805	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6550808	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs66609380	1.00[ASN][1000 genomes]
rs67002637	1.00[ASN][1000 genomes]
rs67236598	1.00[ASN][1000 genomes]
rs67606949	1.00[ASN][1000 genomes]
rs6767005	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775878	1.00[ASN][1000 genomes]
rs6776201	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776568	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778577	0.83[MEX][hapmap]
rs6790140	1.00[ASN][1000 genomes]
rs6803214	1.00[ASN][1000 genomes]
rs71324126	1.00[ASN][1000 genomes]
rs73150266	1.00[ASN][1000 genomes]
rs73150299	1.00[ASN][1000 genomes]
rs7610689	1.00[ASN][1000 genomes]
rs7610935	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7611018	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs954748	1.00[ASN][1000 genomes]
rs9809225	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs9812419	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853954	1.00[ASN][1000 genomes]
rs9855481	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs9859567	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9863176	1.00[ASN][1000 genomes]
rs9875577	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9882067	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9883834	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23853000-23876000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:23853000-23876000	Weak transcription	Fetal Stomach	stomach
3	chr3:23853000-23882000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:23853000-23887400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:23853200-23893200	Weak transcription	Thymus	Thymus
6	chr3:23853400-23885600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:23854400-23876800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:23855000-23900200	Weak transcription	HSMM	muscle
9	chr3:23857600-23894000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:23857600-23900000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:23862000-23876400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:23862000-23881400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:23862000-23882000	Weak transcription	Fetal Intestine Large	intestine
14	chr3:23863000-23877800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:23863000-23878000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:23863200-23874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:23865600-23877800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:23866000-23872400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:23866400-23873400	Weak transcription	Fetal Intestine Small	intestine
20	chr3:23866800-23874000	Weak transcription	Spleen	Spleen
21	chr3:23866800-23878000	Weak transcription	Liver	Liver
22	chr3:23867000-23872200	Weak transcription	HMEC	breast
23	chr3:23867000-23877400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:23867000-23881400	Weak transcription	HepG2	liver
25	chr3:23867200-23872200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:23868000-23873200	Weak transcription	Lung	lung
27	chr3:23868000-23873600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:23868000-23875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:23868000-23877800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:23868000-23884800	Weak transcription	NHDF-Ad	bronchial
31	chr3:23868000-23897800	Weak transcription	HUVEC	blood vessel
32	chr3:23868200-23872200	Weak transcription	NHEK	skin
33	chr3:23868200-23872800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:23868200-23875200	Weak transcription	Gastric	stomach
35	chr3:23868200-23876800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:23868200-23878000	Weak transcription	Right Ventricle	heart
37	chr3:23868200-23878200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:23868200-23878200	Weak transcription	Right Atrium	heart
39	chr3:23868200-23878600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:23868200-23881800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:23868200-23883600	Weak transcription	Left Ventricle	heart
42	chr3:23868200-23893000	Weak transcription	Fetal Thymus	thymus
43	chr3:23868400-23877800	Weak transcription	Brain Substantia Nigra	brain
44	chr3:23868600-23875200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:23868600-23881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:23868800-23873400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:23869200-23875600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:23869600-23875800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:23869600-23881400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:23870000-23872400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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