Variant report

Variant	rs407847
Chromosome Location	chr20:22319040-22319041
allele	C/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]
rs169232	0.85[ASN][1000 genomes]
rs6137607	0.81[ASN][1000 genomes]
rs6137609	0.81[ASN][1000 genomes]
rs7267431	0.80[ASN][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	nsv833942	chr20:22283122-22440749	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22315000-22320600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22315400-22319600	Weak transcription	A549	lung
3	chr20:22318200-22319400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:22318600-22322600	Enhancers	NHEK	skin
5	chr20:22319000-22319200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:22319000-22319400	Enhancers	HMEC	breast

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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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