Variant report

Variant	rs72762215
Chromosome Location	chr5:54186548-54186549
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58538591	1.00[EUR][1000 genomes]
rs58637533	1.00[EUR][1000 genomes]
rs72760150	0.95[AMR][1000 genomes]
rs72760157	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72762213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7449307	0.89[AMR][1000 genomes]
rs7730464	1.00[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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv598179	chr5:54156269-54192823	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54180400-54187800	Weak transcription	Gastric	stomach
2	chr5:54184400-54186600	Enhancers	HSMM	muscle
3	chr5:54185200-54186800	Enhancers	Hela-S3	cervix
4	chr5:54185200-54186800	Enhancers	HSMMtube	muscle
5	chr5:54185400-54186600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:54185400-54186600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:54185400-54186600	Enhancers	NH-A	brain
8	chr5:54185400-54186600	Enhancers	Osteobl	bone
9	chr5:54185600-54186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:54185600-54186600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:54186200-54196600	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:54186400-54186600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:54186400-54186800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:54186400-54191200	Weak transcription	Fetal Kidney	kidney

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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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