Variant report

Variant	rs4682289
Chromosome Location	chr3:111303494-111303495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11919740	0.90[ASN][1000 genomes]
rs1282090	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1391361	1.00[JPT][hapmap]
rs1513330	1.00[CEU][hapmap]
rs17202775	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17202782	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs34111129	1.00[ASN][1000 genomes]
rs3817260	0.85[CEU][hapmap]
rs4428148	0.82[CEU][hapmap]
rs4682051	0.90[ASN][1000 genomes]
rs4682288	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs55900677	1.00[ASN][1000 genomes]
rs6807632	1.00[CEU][hapmap]
rs7612391	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs7639907	1.00[CEU][hapmap]
rs9836430	0.85[CEU][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111295800-111311400	Strong transcription	Fetal Thymus	thymus
2	chr3:111296000-111314400	Strong transcription	Primary T cells from cord blood	blood
3	chr3:111296400-111314600	Strong transcription	Dnd41	blood
4	chr3:111297200-111307200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr3:111298600-111305400	Weak transcription	Thymus	Thymus
6	chr3:111299200-111305200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:111299400-111328600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:111299800-111310400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:111301000-111310200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:111301400-111304000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:111301400-111307200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:111301400-111307400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr3:111301600-111303600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:111301600-111303600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:111301600-111303600	Weak transcription	NH-A	brain
16	chr3:111301600-111310800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:111301800-111303800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:111301800-111306800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:111302000-111306600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:111302200-111308600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:111302400-111303600	Enhancers	Small Intestine	intestine
22	chr3:111302400-111307400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:111302600-111305000	Enhancers	Fetal Intestine Small	intestine
24	chr3:111302600-111305800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:111302600-111306200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:111302600-111311800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr3:111302800-111303800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr3:111302800-111304800	Enhancers	A549	lung
29	chr3:111302800-111305400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:111302800-111306200	Enhancers	Stomach Mucosa	stomach
31	chr3:111302800-111306800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:111303000-111304800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:111303000-111305600	Enhancers	NHEK	skin
34	chr3:111303200-111304400	Enhancers	Osteobl	bone
35	chr3:111303200-111305400	Enhancers	Hela-S3	cervix
36	chr3:111303200-111305400	Enhancers	HMEC	breast
37	chr3:111303200-111307200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:111303400-111304000	Enhancers	Duodenum Mucosa	Duodenum
39	chr3:111303400-111305400	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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