Variant report

Variant	rs12539136
Chromosome Location	chr7:104133433-104133434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11760238	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11761138	1.00[JPT][hapmap]
rs11762662	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12533385	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12705218	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs13232636	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13234705	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs13238097	1.00[JPT][hapmap]
rs17335819	1.00[JPT][hapmap]
rs2073790	0.97[ASN][1000 genomes]
rs2073792	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2188172	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs756669	1.00[JPT][hapmap]

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	nsv888925	chr7:104047599-104170560	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12539136	LAMB1	cis	parietal	SCAN
rs12539136	ATXN7L1	cis	cerebellum	SCAN
rs12539136	AGFG2	cis	cerebellum	SCAN
rs12539136	PMS2L1	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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