Variant report

Variant	rs575173122
Chromosome Location	chr8:49754209-49754210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3378729	chr8:49753913-49754210	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49748000-49754600	Weak transcription	Esophagus	oesophagus
2	chr8:49751600-49754600	Weak transcription	Fetal Lung	lung
3	chr8:49752000-49758600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:49752200-49754400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:49752400-49754600	Weak transcription	Brain Germinal Matrix	brain
6	chr8:49754000-49754800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:49754200-49754800	Enhancers	NHDF-Ad	bronchial
8	chr8:49754200-49755400	Enhancers	Foreskin Melanocyte Primary Cells skin03	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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