Variant report

Variant	rs3913991
Chromosome Location	chr6:54294156-54294157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs171491	0.96[EUR][1000 genomes]
rs171492	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs243772	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs243773	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs243801	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs243816	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs243818	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4715454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs515020	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs547320	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs568103	0.99[EUR][1000 genomes]
rs638540	0.97[AMR][1000 genomes];0.96[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	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv528901	chr6:54290333-54337130	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54291600-54296200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:54291800-54294600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:54292000-54297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:54292200-54295600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:54293000-54294200	Weak transcription	NHDF-Ad	bronchial
6	chr6:54293000-54296200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:54293400-54294400	Enhancers	GM12878-XiMat	blood
8	chr6:54293600-54296000	Weak transcription	Osteobl	bone
9	chr6:54293800-54296600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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