Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55993449..55995609-chr2:56244406..56246687,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11678312	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679173	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688992	0.86[EUR][1000 genomes]
rs11693381	0.86[EUR][1000 genomes]
rs1367229	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369365	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163238	0.82[EUR][1000 genomes]
rs4671258	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671261	0.86[EUR][1000 genomes]
rs4672072	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916998	0.82[EUR][1000 genomes]
rs55987978	0.81[EUR][1000 genomes]
rs56102096	0.82[EUR][1000 genomes]
rs57233927	0.82[EUR][1000 genomes]
rs59504093	0.82[EUR][1000 genomes]
rs60693760	0.82[EUR][1000 genomes]
rs6705051	0.84[EUR][1000 genomes]
rs72797607	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797613	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805666	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805668	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805673	0.86[EUR][1000 genomes]
rs72805674	0.86[EUR][1000 genomes]
rs72805675	0.86[EUR][1000 genomes]
rs72807714	0.82[EUR][1000 genomes]
rs72807727	0.82[EUR][1000 genomes]
rs72807728	0.82[EUR][1000 genomes]
rs72807744	0.82[EUR][1000 genomes]
rs72814246	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv999962	chr2:55976574-56011517	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv997683	chr2:55976574-56013875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv431080	chr2:55988293-56011517	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 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	chr2:55989400-55997800	Weak transcription	Ovary	ovary
2	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
3	chr2:55990000-55996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:55990000-55998400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:55991400-55996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:55993000-55994200	Enhancers	HUVEC	blood vessel
7	chr2:55993800-55995000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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