Variant report

Variant	rs58231662
Chromosome Location	chr8:130759336-130759337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16904148	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16904150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58825576	0.83[ASN][1000 genomes]
rs6985815	1.00[AMR][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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130745800-130759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:130751600-130760200	Weak transcription	Esophagus	oesophagus
3	chr8:130754600-130766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:130755600-130764000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:130758200-130765400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130758400-130763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:130759200-130765800	Strong transcription	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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