Variant report

Variant	rs6782007
Chromosome Location	chr3:53975115-53975116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11130383	1.00[AMR][1000 genomes]
rs11130384	1.00[AMR][1000 genomes]
rs12715465	1.00[AMR][1000 genomes]
rs13321898	1.00[AMR][1000 genomes]
rs13322337	1.00[AMR][1000 genomes]
rs13434145	1.00[AMR][1000 genomes]
rs28409957	1.00[AMR][1000 genomes]
rs6785238	1.00[AMR][1000 genomes]
rs6802878	1.00[AMR][1000 genomes]
rs72556356	1.00[AMR][1000 genomes]
rs7614233	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7637908	1.00[AMR][1000 genomes]
rs7640840	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9311519	1.00[AFR][1000 genomes]
rs9814675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9816010	1.00[AMR][1000 genomes]
rs9818571	1.00[AMR][1000 genomes]
rs9823141	1.00[AMR][1000 genomes]
rs9829085	1.00[AFR][1000 genomes]
rs9830672	1.00[AMR][1000 genomes]
rs9833359	1.00[AMR][1000 genomes]
rs9834168	1.00[AMR][1000 genomes]
rs9835258	1.00[AMR][1000 genomes]
rs9844994	1.00[AMR][1000 genomes]
rs9849610	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9852243	1.00[AMR][1000 genomes]
rs9859937	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9860224	1.00[AMR][1000 genomes]
rs9872403	1.00[AMR][1000 genomes]
rs9878250	1.00[AMR][1000 genomes]
rs9882134	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1005411	chr3:53927782-54158638	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53974800-53975200	Flanking Active TSS	Hela-S3	cervix
2	chr3:53974800-53975800	Enhancers	NHDF-Ad	bronchial
3	chr3:53974800-53976000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:53974800-53976000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:53974800-53976000	Enhancers	HSMM	muscle
6	chr3:53975000-53975800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:53975000-53975800	Enhancers	NHEK	skin
8	chr3:53975000-53976000	Enhancers	HMEC	breast
9	chr3:53975000-53976200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:53975000-53976200	Enhancers	Muscle Satellite Cultured Cells	--

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