Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:67463389..67464966-chr12:67474386..67476237,2	MCF-7	breast:
2	chr12:67471853..67474414-chr12:67474964..67477043,2	K562	blood:
3	chr12:67475770..67479143-chr12:67480530..67483271,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10506541	0.96[EUR][1000 genomes]
rs10878553	0.80[EUR][1000 genomes]
rs11176552	0.80[EUR][1000 genomes]
rs11176555	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11611265	0.89[CEU][hapmap];0.96[EUR][1000 genomes]
rs11614672	0.96[EUR][1000 genomes]
rs12228922	0.80[EUR][1000 genomes]
rs12231102	0.84[CEU][hapmap]
rs17103378	0.84[CEU][hapmap]
rs17183558	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17183565	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17183655	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17183669	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17183676	0.83[CEU][hapmap]
rs17183711	0.84[CEU][hapmap]
rs17781088	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17781148	0.96[EUR][1000 genomes]
rs17781196	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs2870926	0.80[EUR][1000 genomes]
rs7136952	0.80[EUR][1000 genomes]
rs74098199	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv899217	chr12:67472631-67501987	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67474200-67479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:67474400-67479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:67475200-67476800	Enhancers	HMEC	breast
4	chr12:67475400-67476800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:67475400-67476800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:67475400-67477800	Enhancers	NHEK	skin
7	chr12:67475400-67478000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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