Variant report

Variant	rs458052
Chromosome Location	chr21:16091692-16091693
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11701752	0.95[LWK][hapmap]
rs11702307	0.82[AFR][1000 genomes]
rs13049142	0.95[LWK][hapmap]
rs13050255	0.95[LWK][hapmap]
rs2007558	0.82[AFR][1000 genomes]
rs2246699	0.83[ASW][hapmap];0.82[GIH][hapmap];0.95[LWK][hapmap];0.85[MEX][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2446696	0.83[ASW][hapmap];0.91[LWK][hapmap];0.82[AFR][1000 genomes]
rs2822873	0.95[LWK][hapmap]
rs2822874	0.95[LWK][hapmap]
rs2822875	0.95[LWK][hapmap]
rs460240	0.84[CEU][hapmap];0.94[GIH][hapmap];0.86[LWK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs460246	0.84[EUR][1000 genomes]
rs467364	0.84[EUR][1000 genomes]
rs62218100	0.82[AFR][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	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs458052	SAMSN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16091000-16092600	Enhancers	K562	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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