Variant report

Variant	rs12526453
Chromosome Location	chr6:12927544-12927545
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	chr6:12927202..12927897-chr6:13148834..13149408,2	MCF-7	breast:
2	chr6:12925983..12927810-chr6:12928390..12930957,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1014342	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11756003	1.00[ASN][1000 genomes]
rs12528956	1.00[CHD][hapmap]
rs12530250	1.00[JPT][hapmap]
rs13201878	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs13219256	0.83[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs1332841	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1332844	0.88[CEU][hapmap]
rs1332845	0.83[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs1332847	0.83[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap]
rs1360579	1.00[JPT][hapmap]
rs1537340	1.00[CHD][hapmap]
rs17679501	1.00[JPT][hapmap]
rs1953088	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2327621	0.88[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs2876303	0.87[CEU][hapmap]
rs34175679	1.00[ASN][1000 genomes]
rs34343839	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36049381	1.00[ASN][1000 genomes]
rs4131857	1.00[JPT][hapmap]
rs4331981	1.00[JPT][hapmap]
rs4588689	1.00[ASN][1000 genomes]
rs4711857	1.00[JPT][hapmap]
rs4711858	1.00[JPT][hapmap]
rs4711863	0.84[EUR][1000 genomes]
rs4714946	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4714951	0.83[CEU][hapmap]
rs4714955	0.84[CEU][hapmap]
rs4714990	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs62386818	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62386820	1.00[ASN][1000 genomes]
rs62386821	1.00[ASN][1000 genomes]
rs6458503	1.00[CHD][hapmap]
rs6458545	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs66820937	1.00[ASN][1000 genomes]
rs7454157	0.88[CEU][hapmap]
rs7739181	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750679	0.88[CEU][hapmap]
rs7751826	0.87[CEU][hapmap]
rs7775901	1.00[JPT][hapmap]
rs8180558	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs9296494	1.00[CHD][hapmap]
rs9296512	0.88[CEU][hapmap]
rs9369640	0.88[CEU][hapmap];0.83[GIH][hapmap]
rs9369650	0.84[EUR][1000 genomes]
rs9369652	0.84[EUR][1000 genomes]
rs9381500	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9395214	0.88[CEU][hapmap]
rs9472777	1.00[JPT][hapmap]
rs9472786	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9473086	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv5202	chr6:12916229-12958517	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Coronary heart disease	21378990	GWAS catalog
Myocardial infarction (early onset)	19198609	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12912200-12929800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:12927400-12931800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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