Variant report

Variant	rs7312626
Chromosome Location	chr12:29278354-29278355
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	chr12:29255547..29258096-chr12:29276125..29278955,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10734769	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743644	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771482	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843319	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843323	0.82[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs11050032	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050048	0.80[ASN][1000 genomes]
rs11050050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050051	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs11050052	0.85[CEU][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs11050054	0.80[ASN][1000 genomes]
rs11050055	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs11050059	0.80[ASN][1000 genomes]
rs11050060	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs11050071	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579801	0.82[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1390541	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1561128	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1845820	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2082941	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2099529	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2164492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4081964	0.80[ASN][1000 genomes]
rs4405360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930851	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930853	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55705299	0.80[ASN][1000 genomes]
rs56037667	0.80[ASN][1000 genomes]
rs56140900	0.80[ASN][1000 genomes]
rs56347734	0.80[ASN][1000 genomes]
rs56822691	0.80[ASN][1000 genomes]
rs61359826	0.80[ASN][1000 genomes]
rs6487760	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6487761	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6487762	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487763	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6487776	0.81[ASN][1000 genomes]
rs7137951	0.80[ASN][1000 genomes]
rs7138280	0.80[ASN][1000 genomes]
rs7295664	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295687	0.82[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7299234	0.85[CEU][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7300218	0.82[CEU][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7301704	0.80[ASN][1000 genomes]
rs73067768	0.80[ASN][1000 genomes]
rs73071942	0.80[ASN][1000 genomes]
rs73071962	0.80[ASN][1000 genomes]
rs73071963	0.80[ASN][1000 genomes]
rs7309866	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7310157	0.81[CEU][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7312253	0.80[ASN][1000 genomes]
rs7313804	0.80[ASN][1000 genomes]
rs7486617	0.80[ASN][1000 genomes]
rs7486644	0.80[ASN][1000 genomes]
rs7966003	0.80[ASN][1000 genomes]
rs7966088	0.80[ASN][1000 genomes]
rs7967276	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7970149	0.80[ASN][1000 genomes]
rs7970549	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs959123	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29266400-29286400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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