Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4501150..4503861-chr12:4508040..4510744,2	MCF-7	breast:

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

rs_ID	r²[population]
rs11063105	0.86[ASN][1000 genomes]
rs11063110	0.86[ASN][1000 genomes]
rs11063112	0.94[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs11063118	0.88[CHB][hapmap]
rs11063123	0.95[ASN][1000 genomes]
rs11063127	0.98[ASN][1000 genomes]
rs11063129	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11063130	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12230757	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs12823931	0.87[CHB][hapmap]
rs13312789	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[ASN][1000 genomes]
rs16931344	0.98[ASN][1000 genomes]
rs17773299	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358955	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812822	1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.98[ASN][1000 genomes]
rs61909253	0.82[ASN][1000 genomes]
rs61909254	0.82[ASN][1000 genomes]
rs6489538	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7955866	0.94[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7961824	0.84[ASN][1000 genomes]
rs7966472	0.85[ASN][1000 genomes]
rs7976548	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7978281	0.95[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4501200-4502600	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:4501200-4502600	Enhancers	K562	blood
3	chr12:4501400-4502800	Enhancers	Left Ventricle	heart
4	chr12:4502000-4502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:4502000-4502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:4502000-4503400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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