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:22)

rs_ID	r²[population]
rs11125544	0.99[ASN][1000 genomes]
rs11678461	0.97[ASN][1000 genomes]
rs11683128	0.95[ASN][1000 genomes]
rs11690558	0.85[ASN][1000 genomes]
rs11691922	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11891165	0.88[ASN][1000 genomes]
rs11897031	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11901245	0.99[ASN][1000 genomes]
rs12613164	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12622172	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17046310	0.97[ASN][1000 genomes]
rs17046312	0.97[ASN][1000 genomes]
rs17521852	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35559436	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56320255	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58350716	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6709473	0.98[ASN][1000 genomes]
rs6713115	0.98[ASN][1000 genomes]
rs6761960	0.98[ASN][1000 genomes]
rs72915588	0.99[ASN][1000 genomes]
rs72917512	0.95[ASN][1000 genomes]
rs72917514	0.98[ASN][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	chr2:54995600-54998800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:54997400-54998800	Enhancers	NHEK	skin
3	chr2:54997400-55000600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:54997400-55000800	Enhancers	HSMMtube	muscle
5	chr2:54997600-54999200	Enhancers	NH-A	brain
6	chr2:54997600-55000600	Enhancers	HSMM	muscle
7	chr2:54997600-55000800	Enhancers	HMEC	breast
8	chr2:54997600-55001400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:54997800-55000600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:54997800-55000600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:54997800-55000600	Enhancers	NHDF-Ad	bronchial
12	chr2:54998000-54998800	Enhancers	Placenta	Placenta
13	chr2:54998000-55000200	Enhancers	HUVEC	blood vessel
14	chr2:54998000-55000600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:54998200-54999800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:54998200-55000400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:54998200-55000400	Enhancers	Osteobl	bone
18	chr2:54998400-55000400	Enhancers	Hela-S3	cervix
19	chr2:54998400-55000600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:54998600-54999000	Flanking Active TSS	Fetal Brain Female	brain
21	chr2:54998600-54999200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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