Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114512806..114514791-chr2:114533801..114535342,2	MCF-7	breast:
2	chr2:114532490..114535142-chr2:114535239..114537247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

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

rs_ID	r²[population]
rs11883517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11884386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11893594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11898549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11900919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2595146	0.89[EUR][1000 genomes]
rs2595147	0.89[EUR][1000 genomes]
rs2595150	0.89[EUR][1000 genomes]
rs2687625	0.89[EUR][1000 genomes]
rs2922397	0.89[EUR][1000 genomes]
rs55904407	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57221018	0.89[EUR][1000 genomes]
rs57637656	0.89[EUR][1000 genomes]
rs58503179	0.89[EUR][1000 genomes]
rs61237312	0.89[EUR][1000 genomes]
rs72946684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72946701	0.89[EUR][1000 genomes]
rs72946702	0.89[EUR][1000 genomes]
rs72948606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72948653	1.00[AMR][1000 genomes];0.89[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	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114534200-114535800	Enhancers	Fetal Intestine Small	intestine
2	chr2:114534400-114535400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:114534400-114535600	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:114534400-114535800	Enhancers	Fetal Intestine Large	intestine
5	chr2:114534600-114534800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:114534600-114535400	Enhancers	HepG2	liver
7	chr2:114534600-114535600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:114534600-114535800	Enhancers	Rectal Mucosa Donor 31	rectum

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