Variant report

Variant	rs12522681
Chromosome Location	chr5:92491886-92491887
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11958890	0.81[ASN][1000 genomes]
rs12513458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513551	0.84[EUR][1000 genomes]
rs12522702	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12523084	0.81[EUR][1000 genomes]
rs1603407	0.81[ASN][1000 genomes]
rs17082917	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17360518	0.92[ASN][1000 genomes]
rs17360811	0.90[ASN][1000 genomes]
rs1961168	0.81[JPT][hapmap]
rs4308464	0.96[ASN][1000 genomes]
rs4312865	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339337	0.81[EUR][1000 genomes]
rs4342312	0.97[ASN][1000 genomes]
rs4401560	0.84[EUR][1000 genomes]
rs4493655	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4599520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55971857	0.93[ASN][1000 genomes]
rs56854549	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57921649	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58191018	0.81[EUR][1000 genomes]
rs59273613	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66552510	0.81[EUR][1000 genomes]
rs66614167	0.81[EUR][1000 genomes]
rs66856683	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67395049	0.84[EUR][1000 genomes]
rs67565700	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67832642	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67895058	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6866281	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs72656686	0.81[EUR][1000 genomes]
rs7718530	0.97[ASN][1000 genomes]
rs9314229	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs9314230	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs998492	0.81[ASN][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	nsv1015770	chr5:91911877-92498264	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12522681	ANKRD32	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92486600-92496400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:92486600-92498200	Weak transcription	Aorta	Aorta
3	chr5:92487800-92494200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:92488000-92494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:92488200-92494600	Weak transcription	NHLF	lung
6	chr5:92488400-92494200	Weak transcription	NHDF-Ad	bronchial
7	chr5:92488400-92494400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:92488400-92494400	Weak transcription	Osteobl	bone
9	chr5:92488600-92494200	Weak transcription	HSMM	muscle
10	chr5:92490800-92494000	Weak transcription	HepG2	liver
11	chr5:92490800-92494200	Weak transcription	Muscle Satellite Cultured Cells	--

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