Variant report

Variant	rs2821081
Chromosome Location	chr1:47639539-47639540
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2265984	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2494249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2758713	1.00[EUR][1000 genomes]
rs2798357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56907764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684305	0.90[EUR][1000 genomes]
rs9333040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47596400-47641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:47638800-47644800	Weak transcription	Ovary	ovary
3	chr1:47639400-47639600	Enhancers	Liver	Liver
4	chr1:47639400-47639600	Bivalent Enhancer	K562	blood
5	chr1:47639400-47641600	Enhancers	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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