Variant report

Variant	rs1507560
Chromosome Location	chr2:189490490-189490491
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189484574..189486120-chr2:189488843..189490646,2	K562	blood:
2	chr2:189471021..189473862-chr2:189489903..189491806,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10153871	1.00[ASN][1000 genomes]
rs10172178	1.00[ASN][1000 genomes]
rs10199260	1.00[JPT][hapmap]
rs10203054	1.00[ASN][1000 genomes]
rs10804021	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931363	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931369	0.96[EUR][1000 genomes]
rs10931376	0.86[EUR][1000 genomes]
rs11676859	0.83[EUR][1000 genomes]
rs11683089	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683183	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686702	0.81[AMR][1000 genomes]
rs11695316	1.00[JPT][hapmap]
rs11889220	0.93[EUR][1000 genomes]
rs12463744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs12475894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12476413	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12988921	0.92[EUR][1000 genomes]
rs13011602	0.86[EUR][1000 genomes]
rs13012993	0.84[EUR][1000 genomes]
rs13025659	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13386959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13392850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13393057	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13396968	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13397653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13412448	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13414327	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13418031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1354902	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1354904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs1354908	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1395868	0.86[EUR][1000 genomes]
rs1507551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1507561	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs1580993	0.96[EUR][1000 genomes]
rs1807235	1.00[ASN][1000 genomes]
rs1911602	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911603	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2350903	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882532	0.81[AMR][1000 genomes]
rs3935690	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4146570	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146571	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4453658	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4577225	0.87[ASN][1000 genomes]
rs4591284	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667229	1.00[JPT][hapmap]
rs4667231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6707212	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6708451	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709557	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6756504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7419798	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7420808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7422739	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7423554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7582643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7587596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7596299	0.97[EUR][1000 genomes]
rs7602180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs781261	1.00[CHB][hapmap]
rs8273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs955813	0.86[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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189484800-189494600	Weak transcription	Aorta	Aorta
2	chr2:189487200-189490600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:189488200-189494000	Weak transcription	Fetal Stomach	stomach
4	chr2:189489200-189494000	Weak transcription	NH-A	brain
5	chr2:189489400-189493400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:189489400-189494000	Weak transcription	NHLF	lung
7	chr2:189489400-189494200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:189489400-189494400	Weak transcription	Fetal Lung	lung
9	chr2:189489800-189493200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:189489800-189493400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:189489800-189493800	Weak transcription	Osteobl	bone
12	chr2:189490000-189492400	Weak transcription	NHDF-Ad	bronchial
13	chr2:189490000-189493200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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