Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29969333..29971834-chr12:29973020..29974613,2	MCF-7	breast:
2	chr12:29960264..29962976-chr12:29969442..29971898,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10743676	0.89[ASN][1000 genomes]
rs10743677	0.96[ASN][1000 genomes]
rs10743680	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10771582	0.90[ASN][1000 genomes]
rs10843509	0.96[ASN][1000 genomes]
rs10843513	0.96[ASN][1000 genomes]
rs10843517	0.99[ASN][1000 genomes]
rs10843518	0.99[ASN][1000 genomes]
rs10843523	0.90[ASN][1000 genomes]
rs11050438	0.95[ASN][1000 genomes]
rs11050442	0.96[ASN][1000 genomes]
rs11050447	0.96[ASN][1000 genomes]
rs11050452	0.96[ASN][1000 genomes]
rs11050482	0.82[ASN][1000 genomes]
rs11050483	0.82[ASN][1000 genomes]
rs12581400	0.82[ASN][1000 genomes]
rs1370872	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1370873	0.82[ASN][1000 genomes]
rs1438509	0.82[ASN][1000 genomes]
rs1530068	0.82[ASN][1000 genomes]
rs1551929	0.95[ASN][1000 genomes]
rs1595523	0.92[ASN][1000 genomes]
rs1595525	0.92[ASN][1000 genomes]
rs1595527	0.92[ASN][1000 genomes]
rs16934976	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17047	0.96[ASN][1000 genomes]
rs2118640	0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2200272	0.82[ASN][1000 genomes]
rs2200273	0.82[ASN][1000 genomes]
rs2200274	0.81[ASN][1000 genomes]
rs2350669	0.82[ASN][1000 genomes]
rs55976402	0.96[ASN][1000 genomes]
rs56248200	0.96[ASN][1000 genomes]
rs60515177	0.82[ASN][1000 genomes]
rs6487850	0.82[ASN][1000 genomes]
rs6487851	0.82[ASN][1000 genomes]
rs7132819	0.82[ASN][1000 genomes]
rs7306759	0.92[ASN][1000 genomes]
rs7952945	0.96[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv557964	chr12:29956687-29971416	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29970400-29970800	Enhancers	Lung	lung

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