Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:15653294..15655712-chr20:15657720..15659720,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16996363	0.84[EUR][1000 genomes]
rs201215	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs59907076	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6034253	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6079926	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722877	1.00[GIH][hapmap];0.82[LWK][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.93[EUR][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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2751909	chr20:15489871-15656007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv833928	chr20:15619962-15780758	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6074938	MACROD2	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15652400-15657000	Enhancers	Osteobl	bone
2	chr20:15652600-15657400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:15652600-15657400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr20:15652600-15657400	Enhancers	NHDF-Ad	bronchial
5	chr20:15652600-15657800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:15653000-15655400	Enhancers	NH-A	brain
7	chr20:15653000-15655600	Enhancers	HSMMtube	muscle
8	chr20:15653000-15656000	Enhancers	Fetal Heart	heart
9	chr20:15653000-15656600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:15653200-15655000	Weak transcription	Colon Smooth Muscle	Colon
11	chr20:15653200-15655400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr20:15653200-15655400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr20:15653200-15657400	Enhancers	HSMM	muscle
14	chr20:15653400-15657000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr20:15653400-15660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:15653600-15654800	Enhancers	HMEC	breast
17	chr20:15653600-15655400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:15653600-15655400	Enhancers	HUVEC	blood vessel
19	chr20:15653600-15655800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:15654400-15657000	Enhancers	NHLF	lung
21	chr20:15654600-15655200	Enhancers	Aorta	Aorta

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