Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:67481232..67483242-chr12:67484075..67485741,2	MCF-7	breast:
2	chr12:67462372..67464494-chr12:67477959..67482038,6	MCF-7	breast:
3	chr12:67475770..67479143-chr12:67480530..67483271,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256248	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10506541	0.96[EUR][1000 genomes]
rs10878553	0.80[EUR][1000 genomes]
rs1104655	0.81[CEU][hapmap]
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]
rs1526835	0.81[CEU][hapmap]
rs17103378	0.85[CEU][hapmap]
rs17183565	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17183655	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17183669	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17183676	0.84[CEU][hapmap]
rs17183711	0.85[CEU][hapmap]
rs17781064	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17781088	1.00[AFR][1000 genomes];0.91[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]
rs7961562	0.81[CEU][hapmap]

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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67476800-67482200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:67478000-67482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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