Variant report

Variant	rs7612391
Chromosome Location	chr3:111312305-111312306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1282090	1.00[CHD][hapmap]
rs1513330	0.85[CEU][hapmap]
rs17202775	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17202782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs34111129	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4682288	1.00[CHD][hapmap]
rs4682289	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs55900677	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6807632	0.85[CEU][hapmap]
rs7639907	0.85[CEU][hapmap]
rs9836430	1.00[CEU][hapmap];0.86[GIH][hapmap];0.97[EUR][1000 genomes]

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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111296000-111314400	Strong transcription	Primary T cells from cord blood	blood
2	chr3:111296400-111314600	Strong transcription	Dnd41	blood
3	chr3:111299400-111328600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:111308600-111312600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:111308600-111313200	Enhancers	A549	lung
6	chr3:111309000-111312800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:111309200-111312800	Weak transcription	Hela-S3	cervix
8	chr3:111309400-111313400	Weak transcription	HSMMtube	muscle
9	chr3:111309800-111312400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:111310200-111312400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:111310200-111313800	Transcr. at gene 5' and 3'	NHEK	skin
12	chr3:111310200-111317600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:111310400-111312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:111310400-111314400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:111310400-111314400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:111310400-111315600	Enhancers	NH-A	brain
17	chr3:111310600-111314000	Enhancers	NHLF	lung
18	chr3:111310600-111314400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:111310800-111316600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:111311000-111312400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr3:111311000-111312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:111311400-111313800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:111311400-111314200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
24	chr3:111311600-111313600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:111311600-111314800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:111311600-111315000	Enhancers	Primary B cells from peripheral blood	blood
27	chr3:111311800-111312400	Active TSS	Esophagus	oesophagus
28	chr3:111311800-111313000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:111311800-111313200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:111311800-111313800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:111311800-111313800	Flanking Active TSS	HMEC	breast
32	chr3:111311800-111314000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:111311800-111314200	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr3:111311800-111314200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:111311800-111314400	ZNF genes & repeats	Thymus	Thymus
36	chr3:111312000-111314000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr3:111312000-111314400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
38	chr3:111312200-111312400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:111312200-111312600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:111312200-111312600	Weak transcription	Osteobl	bone
41	chr3:111312200-111313200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr3:111312200-111313600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
43	chr3:111312200-111314400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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