Variant report

Variant	rs13012958
Chromosome Location	chr2:189719008-189719009
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189715826..189717705-chr2:189717760..189720172,2	MCF-7	breast:
2	chr2:189717174..189718726-chr2:189718772..189720455,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10804024	0.85[EUR][1000 genomes]
rs1157434	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12185550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470289	0.80[EUR][1000 genomes]
rs12619491	0.80[EUR][1000 genomes]
rs12998848	0.81[EUR][1000 genomes]
rs13001931	0.84[EUR][1000 genomes]
rs13024524	0.85[EUR][1000 genomes]
rs1516439	1.00[ASN][1000 genomes]
rs1516448	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1516449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1516453	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518006	0.86[EUR][1000 genomes]
rs1518012	0.83[CEU][hapmap]
rs1524375	0.84[EUR][1000 genomes]
rs1589133	0.80[EUR][1000 genomes]
rs17355585	0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1829305	0.80[EUR][1000 genomes]
rs1850274	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177544	0.84[EUR][1000 genomes]
rs2203600	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2351099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675395	1.00[ASN][1000 genomes]
rs2675399	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2675400	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2675401	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2675404	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2675405	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2708209	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3856335	0.80[EUR][1000 genomes]
rs4306657	0.80[EUR][1000 genomes]
rs4667249	0.86[EUR][1000 genomes]
rs6757283	0.84[EUR][1000 genomes]
rs7569201	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189714600-189719200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:189716400-189719400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:189717000-189719200	Enhancers	NHDF-Ad	bronchial
4	chr2:189717400-189719200	Enhancers	NHLF	lung
5	chr2:189717600-189719200	Enhancers	Fetal Lung	lung
6	chr2:189719000-189719200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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