Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133991696..133993991-chr3:133997824..133999580,2	K562	blood:
2	chr3:133978478..133980615-chr3:133997511..133999721,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12493731	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28648514	0.83[EUR][1000 genomes]
rs4234422	0.83[EUR][1000 genomes]
rs4234423	0.89[EUR][1000 genomes]
rs4577436	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634087	0.94[EUR][1000 genomes]
rs4682655	0.84[EUR][1000 genomes]
rs4682656	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682657	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682658	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4682672	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439470	0.81[EUR][1000 genomes]
rs6439471	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439475	0.86[EUR][1000 genomes]
rs6779423	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787345	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6791361	0.82[EUR][1000 genomes]
rs6795532	0.84[EUR][1000 genomes]
rs7611104	0.83[EUR][1000 genomes]
rs7616326	0.83[EUR][1000 genomes]
rs7627059	0.84[EUR][1000 genomes]
rs7634265	0.82[EUR][1000 genomes]
rs9812346	0.82[EUR][1000 genomes]
rs9862959	0.89[EUR][1000 genomes]
rs9870797	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883217	0.83[EUR][1000 genomes]
rs9884008	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133997200-133998400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:133997800-133999600	Enhancers	Fetal Lung	lung
3	chr3:133998000-133998400	Enhancers	Stomach Smooth Muscle	stomach
4	chr3:133998000-133998800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:133998000-133998800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:133998000-133998800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:133998000-133999000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:133998000-133999000	Enhancers	Placenta	Placenta
9	chr3:133998000-133999600	Enhancers	Adipose Nuclei	Adipose
10	chr3:133998200-133998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:133998200-133998800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:133998200-133998800	Enhancers	Lung	lung
13	chr3:133998200-133998800	Enhancers	Pancreas	Pancrea
14	chr3:133998200-133999000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:133998200-133999000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:133998200-133999000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:133998200-133999000	Enhancers	Esophagus	oesophagus
18	chr3:133998200-133999000	Enhancers	Fetal Stomach	stomach

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