Variant report

Variant	rs11808498
Chromosome Location	chr1:159506996-159506997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11582280	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[TSI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11588375	1.00[CHB][hapmap]
rs72715681	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72715685	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][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	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11808498	PTDSS1	trans	parietal	SCAN
rs11808498	HSPA6	cis	cerebellum	SCAN
rs11808498	FDPS	cis	parietal	SCAN
rs11808498	OR10Z1	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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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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