Variant report

Variant	rs12227692
Chromosome Location	chr12:67491702-67491703
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	chr12:67461965..67464455-chr12:67489883..67491932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10459266	0.86[ASN][1000 genomes]
rs10784605	0.96[ASN][1000 genomes]
rs10784606	0.96[ASN][1000 genomes]
rs10784607	0.96[ASN][1000 genomes]
rs10784608	0.96[ASN][1000 genomes]
rs10784609	0.96[ASN][1000 genomes]
rs10878553	0.86[ASN][1000 genomes]
rs10878559	0.96[ASN][1000 genomes]
rs10878560	0.96[ASN][1000 genomes]
rs10878561	0.96[ASN][1000 genomes]
rs10878566	0.96[ASN][1000 genomes]
rs11176552	0.86[ASN][1000 genomes]
rs11176555	0.86[ASN][1000 genomes]
rs11176556	0.84[ASN][1000 genomes]
rs11176557	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11176562	0.96[ASN][1000 genomes]
rs11176567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11176577	0.89[ASN][1000 genomes]
rs11176580	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11176582	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176586	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11176589	0.87[EUR][1000 genomes]
rs11176627	1.00[EUR][1000 genomes]
rs11829047	0.96[ASN][1000 genomes]
rs12227624	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228046	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12228922	0.89[ASN][1000 genomes]
rs12228998	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12230670	0.96[ASN][1000 genomes]
rs12231102	1.00[ASN][1000 genomes]
rs12833688	0.96[ASN][1000 genomes]
rs1465026	0.96[ASN][1000 genomes]
rs1526835	0.96[ASN][1000 genomes]
rs1526839	0.96[ASN][1000 genomes]
rs1589971	0.84[ASN][1000 genomes]
rs2870926	0.86[ASN][1000 genomes]
rs2904534	0.93[ASN][1000 genomes]
rs4244070	0.93[ASN][1000 genomes]
rs4913529	0.93[ASN][1000 genomes]
rs6581735	0.96[ASN][1000 genomes]
rs6581740	0.98[ASN][1000 genomes]
rs7136952	0.86[ASN][1000 genomes]
rs7138249	0.86[ASN][1000 genomes]
rs7298268	0.96[ASN][1000 genomes]
rs7311137	0.98[ASN][1000 genomes]
rs7953961	0.82[ASN][1000 genomes]
rs7959866	0.86[ASN][1000 genomes]
rs7961562	0.95[ASN][1000 genomes]
rs7961790	0.98[ASN][1000 genomes]
rs7961954	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7962241	0.98[ASN][1000 genomes]
rs7974866	0.96[ASN][1000 genomes]
rs7980101	0.98[ASN][1000 genomes]
rs941096	0.98[ASN][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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67489400-67491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67491600-67491800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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