Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:125812435..125816842-chr8:125817567..125822282,5	MCF-7	breast:
2	chr8:125810983..125812686-chr8:125813868..125815864,2	MCF-7	breast:
3	chr1:150953019..150955247-chr8:125814204..125815840,2	MCF-7	breast:
4	chr8:125815189..125817914-chr8:125820006..125821779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143412	Chromatin interaction

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

rs_ID	r²[population]
rs13267313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35401131	0.92[AFR][1000 genomes]
rs4871548	0.89[AFR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125811400-125820600	Weak transcription	Lung	lung
2	chr8:125812000-125816200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:125813600-125815400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr8:125813800-125822400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:125814800-125815800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:125814800-125815800	Enhancers	HMEC	breast
7	chr8:125814800-125816600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:125815000-125815600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125815000-125815600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:125815000-125815600	Enhancers	HSMMtube	muscle
11	chr8:125815000-125815600	Enhancers	NHDF-Ad	bronchial
12	chr8:125815000-125815800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr8:125815000-125815800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:125815000-125816800	Enhancers	K562	blood
15	chr8:125815200-125815600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:125815200-125815600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:125815200-125815600	Enhancers	NHEK	skin
18	chr8:125815200-125815600	Enhancers	NHLF	lung
19	chr8:125815200-125815600	Enhancers	Osteobl	bone
20	chr8:125815200-125815800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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