Variant report

Variant	rs6808712
Chromosome Location	chr3:46131231-46131232
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46130825..46132979-chr3:46149857..46153032,4	MCF-7	breast:
2	chr3:46129568..46133226-chr3:46150928..46153874,4	MCF-7	breast:
3	chr3:46129217..46131683-chr3:46137784..46140762,2	MCF-7	breast:
4	chr3:46130909..46132770-chr3:46427115..46429449,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1388605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388606	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388608	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1392288	0.94[CEU][hapmap]
rs1392293	0.85[EUR][1000 genomes]
rs1463680	0.83[CEU][hapmap]
rs1491949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1809733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826342	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873616	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036293	0.83[EUR][1000 genomes]
rs2101446	0.82[EUR][1000 genomes]
rs2133666	0.86[EUR][1000 genomes]
rs2373148	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs2373149	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373152	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373155	0.94[CEU][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4321566	0.82[EUR][1000 genomes]
rs4490404	0.86[EUR][1000 genomes]
rs4493468	0.86[EUR][1000 genomes]
rs4682801	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4682811	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683158	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4683171	0.83[EUR][1000 genomes]
rs4683177	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683181	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767559	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786959	0.93[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6802312	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6807578	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809223	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs7622333	0.94[CEU][hapmap]
rs7638309	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs7653682	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs902760	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904634	0.84[EUR][1000 genomes]
rs9311388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9875616	0.83[CEU][hapmap]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46126200-46132600	Weak transcription	Right Atrium	heart
2	chr3:46127200-46138200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:46129200-46132000	Weak transcription	Dnd41	blood
4	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:46129400-46132000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:46129800-46134000	Enhancers	Primary B cells from cord blood	blood
8	chr3:46129800-46134200	Enhancers	GM12878-XiMat	blood
9	chr3:46129800-46140000	Enhancers	Fetal Thymus	thymus
10	chr3:46130200-46132200	Enhancers	NHLF	lung
11	chr3:46130200-46132400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:46130200-46132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:46130200-46132600	Enhancers	Spleen	Spleen
14	chr3:46130200-46141200	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:46130400-46131400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr3:46130400-46131400	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:46130400-46131600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:46130400-46131600	Enhancers	Fetal Lung	lung
19	chr3:46130400-46131800	Enhancers	HSMMtube	muscle
20	chr3:46130400-46132200	Enhancers	Hela-S3	cervix
21	chr3:46130400-46132200	Enhancers	NHDF-Ad	bronchial
22	chr3:46130400-46132200	Enhancers	NHEK	skin
23	chr3:46130400-46132400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:46130400-46132400	Enhancers	HMEC	breast
25	chr3:46130400-46132600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:46130400-46132600	Enhancers	Adipose Nuclei	Adipose
27	chr3:46130600-46131400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:46130600-46131400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:46130600-46131400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:46130600-46131400	Enhancers	NH-A	brain
31	chr3:46130600-46131800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:46130600-46132000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:46130600-46132000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:46130600-46132200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr3:46130600-46132200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:46130600-46132200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:46130600-46132200	Enhancers	HSMM	muscle
38	chr3:46130600-46133200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:46130600-46133200	Enhancers	Placenta	Placenta
40	chr3:46130600-46143000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr3:46130800-46131400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:46130800-46131400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:46130800-46131400	Enhancers	Gastric	stomach
44	chr3:46130800-46135600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:46130800-46135800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:46131000-46131400	Enhancers	Esophagus	oesophagus
47	chr3:46131000-46131400	Enhancers	Lung	lung
48	chr3:46131000-46131400	Enhancers	Stomach Mucosa	stomach
49	chr3:46131000-46131400	Flanking Active TSS	Osteobl	bone
50	chr3:46131000-46132000	Weak transcription	Primary hematopoietic stem cells	blood

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