Variant report

Variant	rs57819035
Chromosome Location	chr6:48797420-48797421
allele	G/T
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]
rs57968675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7772075	1.00[AMR][1000 genomes]
rs9473489	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9473490	0.89[AFR][1000 genomes];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	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48796400-48801000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:48796400-48802200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:48796400-48803000	Weak transcription	NHDF-Ad	bronchial
4	chr6:48796600-48802600	Weak transcription	HMEC	breast
5	chr6:48797000-48797600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:48797000-48797600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:48797000-48803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:48797400-48802800	Weak transcription	Hela-S3	cervix
9	chr6:48797400-48806800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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