Variant report

Variant	rs2867748
Chromosome Location	chr11:59230701-59230702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10736699	0.92[EUR][1000 genomes]
rs10750922	0.88[EUR][1000 genomes]
rs10896974	0.92[EUR][1000 genomes]
rs11229957	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11229958	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11602535	0.81[EUR][1000 genomes]
rs11604452	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs11605552	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12787182	0.81[EUR][1000 genomes]
rs1349777	0.86[TSI][hapmap]
rs1453541	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1453542	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1453544	0.88[TSI][hapmap]
rs1453547	0.86[TSI][hapmap]
rs1453550	0.86[TSI][hapmap]
rs1453551	0.86[TSI][hapmap]
rs17153770	0.96[YRI][hapmap]
rs17584022	0.80[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs17591107	0.88[TSI][hapmap]
rs1901855	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1901856	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2040326	0.85[TSI][hapmap]
rs2867731	0.91[EUR][1000 genomes]
rs4939291	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6591536	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs7105556	0.85[TSI][hapmap]
rs7119928	0.91[EUR][1000 genomes]
rs7120797	0.91[EUR][1000 genomes]
rs7121582	0.88[TSI][hapmap]
rs7941591	0.92[EUR][1000 genomes]
rs7943953	0.92[EUR][1000 genomes]
rs7947471	0.91[EUR][1000 genomes]
rs7952071	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs896877	0.91[EUR][1000 genomes]
rs896878	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9665874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9988851	0.88[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	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv975342	chr11:59203908-59237268	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2867748	OR5AR1	cis	cerebellum	SCAN
rs2867748	DDB1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59230400-59231000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:59230400-59231200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:59230400-59231200	Enhancers	HUVEC	blood vessel
4	chr11:59230600-59230800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:59230600-59231000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:59230600-59231000	Enhancers	Fetal Kidney	kidney
7	chr11:59230600-59231000	Enhancers	NHDF-Ad	bronchial
8	chr11:59230600-59231200	Enhancers	Ovary	ovary

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