Variant report

Variant	rs491391
Chromosome Location	chr2:141362058-141362059
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10188432	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap]
rs11673851	1.00[JPT][hapmap]
rs11891221	1.00[CHB][hapmap]
rs11897270	1.00[CHB][hapmap]
rs12990666	1.00[CHB][hapmap]
rs12999683	1.00[CHB][hapmap]
rs13003828	1.00[CHB][hapmap]
rs13007837	1.00[CHB][hapmap]
rs13030114	1.00[CHB][hapmap]
rs1401117	1.00[CHB][hapmap]
rs1518443	1.00[CHB][hapmap]
rs1518444	1.00[CHB][hapmap]
rs1518445	1.00[CHB][hapmap]
rs1518446	1.00[CHB][hapmap]
rs16843964	1.00[CHB][hapmap]
rs16843975	1.00[CHB][hapmap]
rs16843984	1.00[CHB][hapmap]
rs16843999	1.00[CHB][hapmap]
rs16844001	1.00[CHB][hapmap]
rs17387299	1.00[CHB][hapmap]
rs1878741	1.00[CHB][hapmap]
rs1878742	1.00[CHB][hapmap]
rs1949452	1.00[CHB][hapmap]
rs2030240	1.00[CHB][hapmap]
rs2030241	1.00[CHB][hapmap]
rs4293513	1.00[CHB][hapmap]
rs4338920	1.00[JPT][hapmap]
rs474084	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs474837	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487419	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs492190	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524037	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538467	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap]
rs6730266	1.00[CHB][hapmap]
rs6744731	1.00[CHB][hapmap]
rs6747180	1.00[CHB][hapmap]
rs7557403	1.00[JPT][hapmap]
rs7581949	1.00[CHB][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	nsv528276	chr2:141354396-141362222	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Optic nerve measurement (disc area)	20395239	GWAS catalog

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141361000-141362200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:141361400-141363000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:141362000-141362200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links