Variant report

Variant	rs7961171
Chromosome Location	chr12:25490121-25490122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10505972	0.82[EUR][1000 genomes]
rs10842540	0.83[EUR][1000 genomes]
rs12579869	0.82[CEU][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs4397949	0.91[ASN][1000 genomes]
rs4406911	0.80[EUR][1000 genomes]
rs4601875	0.85[EUR][1000 genomes]
rs4963875	0.89[EUR][1000 genomes]
rs5027869	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487475	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv898928	chr12:25458354-25499342	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv976719	chr12:25482467-25552186	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7961171	CMAS	cis	parietal	SCAN
rs7961171	LDHB	cis	parietal	SCAN
rs7961171	C2orf64	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25487000-25491200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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