Variant report

Variant	rs11062989
Chromosome Location	chr12:4179913-4179914
allele	C/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:48)

rs_ID	r²[population]
rs10774197	0.82[CEU][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap]
rs10848976	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10848978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10848979	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10848981	0.82[CEU][hapmap]
rs10848982	0.83[CEU][hapmap]
rs10848983	0.81[ASW][hapmap];0.91[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10848984	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11062992	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11062999	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11063000	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11063004	0.81[ASW][hapmap];0.91[CEU][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11063007	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11063008	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11063009	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12228949	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12229320	0.91[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12230013	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12231207	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579541	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12579556	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12579813	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2072497	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2110592	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2160160	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2160161	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358594	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358836	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358837	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2540139	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3889565	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4765762	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4765767	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4765769	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766207	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4766208	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4766209	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4766211	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58334161	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59759498	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60789908	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6489518	0.85[EUR][1000 genomes]
rs7136346	0.85[EUR][1000 genomes]
rs741243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759306	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7969060	0.89[AMR][1000 genomes]
rs7975418	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9634153	0.87[AMR][1000 genomes];0.85[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	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
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11062989	MRPL51	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4178800-4180000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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