Variant report

Variant	rs6490262
Chromosome Location	chr12:120090539-120090540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119880394..119882364-chr12:120088666..120091224,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10732608	0.96[EUR][1000 genomes]
rs10744740	0.89[EUR][1000 genomes]
rs10744741	0.94[EUR][1000 genomes]
rs10744742	0.94[EUR][1000 genomes]
rs10774505	0.91[EUR][1000 genomes]
rs10774507	0.96[EUR][1000 genomes]
rs10774509	0.96[EUR][1000 genomes]
rs10849673	0.89[CEU][hapmap]
rs10849679	0.81[EUR][1000 genomes]
rs10849685	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs10849687	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11064843	0.89[EUR][1000 genomes]
rs11064856	0.96[EUR][1000 genomes]
rs11064864	0.96[EUR][1000 genomes]
rs11064867	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11064868	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1154836	0.96[EUR][1000 genomes]
rs12309592	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12708371	0.94[EUR][1000 genomes]
rs1303904	0.94[EUR][1000 genomes]
rs1319529	0.96[EUR][1000 genomes]
rs1476453	0.90[EUR][1000 genomes]
rs1858982	0.94[EUR][1000 genomes]
rs1966324	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985793	0.89[ASN][1000 genomes]
rs2078938	0.96[EUR][1000 genomes]
rs2301653	0.96[EUR][1000 genomes]
rs2301654	0.96[EUR][1000 genomes]
rs2301655	0.82[GIH][hapmap]
rs2393549	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2393550	0.84[CHD][hapmap];0.90[MEX][hapmap];0.86[ASN][1000 genomes]
rs278124	0.85[GIH][hapmap]
rs278133	0.82[JPT][hapmap]
rs278136	0.81[JPT][hapmap]
rs2893805	0.96[EUR][1000 genomes]
rs2893806	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3847956	0.92[EUR][1000 genomes]
rs4766944	0.96[EUR][1000 genomes]
rs4766945	0.96[EUR][1000 genomes]
rs4767832	0.90[EUR][1000 genomes]
rs4767834	0.96[EUR][1000 genomes]
rs4767835	0.96[EUR][1000 genomes]
rs4767838	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6490260	0.94[CEU][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6490261	0.96[EUR][1000 genomes]
rs6490263	0.84[ASN][1000 genomes]
rs6490264	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6490265	0.85[ASN][1000 genomes]
rs7138785	0.96[EUR][1000 genomes]
rs7295362	0.89[CEU][hapmap]
rs7306273	0.91[EUR][1000 genomes]
rs7310741	0.94[EUR][1000 genomes]
rs7316295	0.84[EUR][1000 genomes]
rs739423	0.91[EUR][1000 genomes]
rs7954674	0.89[CEU][hapmap]
rs7955441	0.96[EUR][1000 genomes]
rs7957284	0.94[EUR][1000 genomes]
rs7958547	0.92[EUR][1000 genomes]
rs7965791	0.94[EUR][1000 genomes]
rs7969977	0.89[ASN][1000 genomes]
rs7978341	0.88[EUR][1000 genomes]
rs7981024	0.94[EUR][1000 genomes]
rs9668717	0.81[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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6490262	POP5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120083600-120094400	Weak transcription	HSMM	muscle

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