Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54992606..54995147-chr2:54997836..54999443,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17046386	1.00[AMR][1000 genomes]
rs59015634	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61346650	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723047	0.85[AMR][1000 genomes]
rs6740845	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934812	0.83[AFR][1000 genomes]
rs73934813	0.87[AFR][1000 genomes]
rs73934833	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934839	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73934840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73935663	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73935665	0.80[AFR][1000 genomes]
rs73935667	1.00[AMR][1000 genomes]
rs73935669	0.85[AMR][1000 genomes]
rs73936456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936458	0.89[AFR][1000 genomes]
rs73936459	0.89[AFR][1000 genomes]
rs73936460	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73936464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1844855	chr2:54987215-55012202	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54992200-54998600	Weak transcription	Fetal Brain Female	brain
2	chr2:54995600-54998400	Weak transcription	Hela-S3	cervix
3	chr2:54995600-54998800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54996200-54998400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:54997400-54998800	Enhancers	NHEK	skin
6	chr2:54997400-55000600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:54997400-55000800	Enhancers	HSMMtube	muscle
8	chr2:54997600-54999200	Enhancers	NH-A	brain
9	chr2:54997600-55000600	Enhancers	HSMM	muscle
10	chr2:54997600-55000800	Enhancers	HMEC	breast
11	chr2:54997600-55001400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:54997800-54998600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:54997800-55000600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:54997800-55000600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:54997800-55000600	Enhancers	NHDF-Ad	bronchial
16	chr2:54998000-54998800	Enhancers	Placenta	Placenta
17	chr2:54998000-55000200	Enhancers	HUVEC	blood vessel
18	chr2:54998000-55000600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:54998200-54999800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:54998200-55000400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:54998200-55000400	Enhancers	Osteobl	bone

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