Variant report

Variant	rs7947422
Chromosome Location	chr11:4946550-4946551
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs16907439	0.90[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17252989	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs17338048	0.90[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34123277	0.91[EUR][1000 genomes]
rs34280136	0.91[EUR][1000 genomes]
rs35264256	0.90[EUR][1000 genomes]
rs35301592	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35666095	0.90[EUR][1000 genomes]
rs71480740	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	esv2758254	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2759799	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv7652	chr11:4946245-4997769	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7947422	ST5	cis	parietal	SCAN
rs7947422	OR51G2	cis	cerebellum	SCAN
rs7947422	OR56A5	cis	parietal	SCAN
rs7947422	ART1	cis	parietal	SCAN

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

No data

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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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