Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122755431..122757095-chr8:122757384..122758990,2	MCF-7	breast:
2	chr8:122753828..122756644-chr8:122758679..122761517,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10105831	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11778114	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62525276	0.85[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	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1030713	chr8:122714959-122780805	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1457168	WDR67	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122754000-122756200	Flanking Active TSS	A549	lung
2	chr8:122754000-122756400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:122754000-122756800	Enhancers	HMEC	breast
4	chr8:122754000-122756800	Enhancers	Osteobl	bone
5	chr8:122754000-122757200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:122754200-122756400	Enhancers	HSMM	muscle
7	chr8:122754200-122756800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:122754600-122757000	Enhancers	NHEK	skin
9	chr8:122754800-122756200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:122754800-122756200	Enhancers	Dnd41	blood
11	chr8:122755200-122756200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:122755200-122756200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:122755400-122756800	Enhancers	Hela-S3	cervix
14	chr8:122755600-122756800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:122755600-122761400	Weak transcription	Fetal Intestine Large	intestine
16	chr8:122755800-122760400	Weak transcription	NH-A	brain
17	chr8:122755800-122760400	Weak transcription	NHLF	lung
18	chr8:122755800-122760600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:122755800-122761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:122755800-122761200	Weak transcription	HSMMtube	muscle
21	chr8:122756000-122760400	Weak transcription	NHDF-Ad	bronchial

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