Variant report

Variant	rs508089
Chromosome Location	chr5:111263161-111263162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10045865	0.84[EUR][1000 genomes]
rs10059738	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10063079	0.94[ASN][1000 genomes]
rs10463623	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs10463624	0.90[CHB][hapmap];0.80[JPT][hapmap];0.96[ASN][1000 genomes]
rs11241145	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11241146	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs12187912	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12187919	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13160727	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13169766	0.86[ASN][1000 genomes]
rs13188104	0.84[EUR][1000 genomes]
rs1493453	0.96[ASN][1000 genomes]
rs1493457	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1494585	0.97[ASN][1000 genomes]
rs1507846	0.83[EUR][1000 genomes]
rs1603081	0.87[EUR][1000 genomes]
rs1994871	0.87[EUR][1000 genomes]
rs2017552	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2047070	0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2048155	0.90[CHB][hapmap];0.95[ASN][1000 genomes]
rs255910	0.82[ASN][1000 genomes]
rs255928	0.87[ASN][1000 genomes]
rs255929	0.84[ASN][1000 genomes]
rs255930	0.82[ASN][1000 genomes]
rs25791	0.85[EUR][1000 genomes]
rs25795	0.88[CEU][hapmap]
rs26539	0.88[ASN][1000 genomes]
rs26540	0.87[ASN][1000 genomes]
rs26541	0.88[ASN][1000 genomes]
rs26542	0.88[ASN][1000 genomes]
rs26543	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs26545	0.95[ASN][1000 genomes]
rs26557	0.84[ASN][1000 genomes]
rs26558	0.84[ASN][1000 genomes]
rs26559	0.86[ASN][1000 genomes]
rs26560	0.86[ASN][1000 genomes]
rs26561	0.87[ASN][1000 genomes]
rs26562	0.87[ASN][1000 genomes]
rs26563	0.87[ASN][1000 genomes]
rs27535	0.88[ASN][1000 genomes]
rs34924	0.91[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs34928	0.95[ASN][1000 genomes]
rs34930	0.95[ASN][1000 genomes]
rs34931	0.95[ASN][1000 genomes]
rs34941	0.84[ASN][1000 genomes]
rs34942	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs34942854	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35303575	0.96[ASN][1000 genomes]
rs35658682	0.97[ASN][1000 genomes]
rs36061964	0.91[ASN][1000 genomes]
rs36069145	0.91[ASN][1000 genomes]
rs36133922	0.96[ASN][1000 genomes]
rs41142	0.87[ASN][1000 genomes]
rs42308	0.95[ASN][1000 genomes]
rs474807	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs490983	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491101	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4957626	0.96[CEU][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs4957992	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4957993	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4957996	0.86[EUR][1000 genomes]
rs504582	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs586262	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs593236	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs624694	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6878696	0.86[EUR][1000 genomes]
rs6881837	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6882073	0.94[ASN][1000 genomes]
rs6882205	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6890246	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6898198	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs712660	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709592	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7710690	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7712177	0.87[EUR][1000 genomes]
rs7712346	0.83[EUR][1000 genomes]
rs7716521	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7730997	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7735316	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9326846	0.95[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs980888	0.96[ASN][1000 genomes]

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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs508089	BDKRB1	trans	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111256800-111264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:111262400-111267400	Enhancers	NHLF	lung
3	chr5:111262400-111269400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:111262400-111269400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:111262400-111269400	Enhancers	NHDF-Ad	bronchial
6	chr5:111262600-111263200	Enhancers	NH-A	brain
7	chr5:111262600-111268400	Enhancers	HSMMtube	muscle
8	chr5:111262600-111268400	Enhancers	Osteobl	bone
9	chr5:111262600-111269000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:111262600-111269400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:111262800-111263600	Enhancers	Fetal Heart	heart
12	chr5:111263000-111263800	Enhancers	Fetal Brain Male	brain
13	chr5:111263000-111269200	Enhancers	HSMM	muscle

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