Variant report

Variant	rs11062992
Chromosome Location	chr12:4192876-4192877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10774197	0.82[CEU][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs10848976	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10848978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10848979	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848981	0.82[CEU][hapmap]
rs10848982	0.83[CEU][hapmap]
rs10848983	0.82[ASW][hapmap];0.91[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10848984	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11062989	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11062999	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11063000	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11063003	0.81[AMR][1000 genomes]
rs11063004	0.82[ASW][hapmap];0.91[CEU][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11063007	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11063008	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11063009	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12228949	0.87[AMR][1000 genomes]
rs12229320	0.91[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12230013	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12231207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579541	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12579556	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12579813	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2072497	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2110592	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2160160	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2160161	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358594	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358836	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358837	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2540139	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3889565	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4765762	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4765767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765769	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766207	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4766208	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4766209	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4766211	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58334161	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59759498	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60789908	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6489518	0.85[EUR][1000 genomes]
rs7136346	0.85[EUR][1000 genomes]
rs741243	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759306	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7969060	0.84[AMR][1000 genomes]
rs7975418	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9634153	0.90[AMR][1000 genomes];0.85[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11062992	MRPL51	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4189800-4201000	Weak transcription	Pancreas	Pancrea
2	chr12:4191800-4194200	Enhancers	Placenta	Placenta
3	chr12:4192000-4193200	Enhancers	Fetal Thymus	thymus
4	chr12:4192000-4195000	Enhancers	Fetal Lung	lung
5	chr12:4192000-4196400	Enhancers	Fetal Stomach	stomach
6	chr12:4192200-4193600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:4192200-4194800	Enhancers	Adipose Nuclei	Adipose
8	chr12:4192800-4193000	Enhancers	Lung	lung

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