Variant report

Variant	rs2617614
Chromosome Location	chr5:127573182-127573183
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10059368	1.00[AFR][1000 genomes]
rs10063914	1.00[AFR][1000 genomes]
rs10477682	1.00[AFR][1000 genomes]
rs13355538	1.00[AFR][1000 genomes]
rs41298324	1.00[AFR][1000 genomes]
rs7356632	1.00[AFR][1000 genomes]
rs989548	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr5:127572400-127573200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:127572400-127573400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:127572800-127573200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:127572800-127573600	Enhancers	Fetal Muscle Leg	muscle
5	chr5:127572800-127573800	Enhancers	Fetal Stomach	stomach
6	chr5:127573000-127573400	Enhancers	Fetal Lung	lung
7	chr5:127573000-127573600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:127573000-127573600	Enhancers	NHEK	skin

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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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