Variant report

Variant	rs2054615
Chromosome Location	chr2:213484752-213484753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213476033..213477807-chr2:213483623..213485149,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10174150	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676391	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679805	0.92[EUR][1000 genomes]
rs11688976	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11692809	1.00[ASN][1000 genomes]
rs11695521	0.80[ASN][1000 genomes]
rs11896992	0.85[ASN][1000 genomes]
rs13386921	0.85[ASN][1000 genomes]
rs13394068	0.80[ASN][1000 genomes]
rs13395632	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410624	0.91[EUR][1000 genomes]
rs13431135	0.81[ASN][1000 genomes]
rs13431628	0.80[ASN][1000 genomes]
rs1384297	0.83[ASN][1000 genomes]
rs1600883	0.85[ASN][1000 genomes]
rs1600884	0.83[ASN][1000 genomes]
rs1878566	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2054613	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068404	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128324	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220026	0.83[ASN][1000 genomes]
rs2371710	0.83[ASN][1000 genomes]
rs4337429	0.83[ASN][1000 genomes]
rs4673669	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673673	0.83[ASN][1000 genomes]
rs4673674	0.85[ASN][1000 genomes]
rs57917865	0.90[EUR][1000 genomes]
rs58184703	0.85[ASN][1000 genomes]
rs61521361	0.92[EUR][1000 genomes]
rs62187967	0.82[ASN][1000 genomes]
rs62187968	0.82[ASN][1000 genomes]
rs6435715	0.83[ASN][1000 genomes]
rs6435716	0.85[ASN][1000 genomes]
rs6706987	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708862	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6711917	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6712252	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6731808	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743091	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67447343	0.90[EUR][1000 genomes]
rs6749009	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750857	0.85[ASN][1000 genomes]
rs67535717	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761880	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72933003	0.83[ASN][1000 genomes]
rs72933004	0.83[ASN][1000 genomes]
rs72933008	0.83[ASN][1000 genomes]
rs72951177	0.80[ASN][1000 genomes]
rs72951178	0.80[ASN][1000 genomes]
rs7572637	0.88[ASN][1000 genomes]
rs7580653	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7583787	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7585465	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587236	0.88[ASN][1000 genomes]
rs7590700	0.88[ASN][1000 genomes]
rs7598633	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7601545	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606156	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288454	0.82[AFR][1000 genomes]
rs9288455	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv875813	chr2:213480637-213509809	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213482400-213485600	Enhancers	HMEC	breast
2	chr2:213483000-213485600	Enhancers	NHEK	skin
3	chr2:213483200-213485400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:213483200-213485400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:213483200-213485600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:213483600-213485000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:213483800-213485200	Enhancers	Muscle Satellite Cultured Cells	--

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