Variant report

Variant	rs28585462
Chromosome Location	chr5:54157345-54157346
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10037462	1.00[AMR][1000 genomes]
rs10045193	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10065443	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10075204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10075516	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10213818	1.00[AMR][1000 genomes]
rs13353863	1.00[AMR][1000 genomes]
rs13356362	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13359248	1.00[AMR][1000 genomes]
rs1560168	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6861370	1.00[AMR][1000 genomes]
rs6862424	1.00[AMR][1000 genomes]
rs6880497	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7708519	0.91[AFR][1000 genomes];1.00[AMR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54155800-54163000	Weak transcription	Aorta	Aorta
2	chr5:54156400-54157400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:54156400-54158200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:54156400-54158200	Enhancers	NHDF-Ad	bronchial
5	chr5:54156400-54158400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:54156600-54158200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:54156600-54158400	Enhancers	HSMMtube	muscle
8	chr5:54156600-54158600	Enhancers	HSMM	muscle
9	chr5:54156600-54158800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:54156600-54159200	Enhancers	NHLF	lung
11	chr5:54156800-54158200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:54156800-54158200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:54156800-54158400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:54157200-54157400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:54157200-54157600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:54157200-54158000	Flanking Active TSS	NH-A	brain
17	chr5:54157200-54158000	Flanking Active TSS	Osteobl	bone
18	chr5:54157200-54158200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

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

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