Variant report

Variant	rs12528625
Chromosome Location	chr6:49378668-49378669
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 14 )

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

rs_ID	r²[population]
rs1471539	0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs2229384	0.87[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2251115	0.87[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2448704	0.87[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2448705	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2493441	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2501959	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2501960	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2501964	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2501965	0.80[EUR][1000 genomes]
rs2501966	0.82[CHB][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs2501968	0.83[CHB][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs2501978	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs502946	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap]
rs562077	1.00[ASW][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs6458685	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458688	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6902429	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6915187	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6916888	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6918347	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921413	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7759071	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7767725	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7774688	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8589	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349491	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9369898	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381784	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381787	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381788	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381789	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9395492	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9395493	0.87[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9463478	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9463482	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9473550	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv915806	chr6:49313295-49430422	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv970648	chr6:49369351-49383043	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs12528625	CENPQ	cis	Esophagus Muscularis	GTEx
rs12528625	CENPQ	cis	Muscle Skeletal	GTEx
rs12528625	MUT	cis	cerebellum	SCAN
rs12528625	CENPQ	cis	lung	GTEx
rs12528625	C6orf139	cis	normal skin	skin_eQTL
rs12528625	CENPQ	cis	Esophagus Mucosa	GTEx
rs12528625	CENPQ	cis	Adipose Subcutaneous	GTEx
rs12528625	MUT	cis	multi-tissue	Pritchard
rs12528625	C6orf139	cis	multi-tissue	Pritchard
rs12528625	MUT	cis	Nerve Tibial	GTEx
rs12528625	CENPQ	cis	lymphoblastoid	seeQTL
rs12528625	CENPQ	cis	Nerve Tibial	GTEx
rs12528625	CENPQ	cis	Artery Tibial	GTEx
rs12528625	CENPQ	cis	multi-tissue	Pritchard

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49378200-49382600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49378200-49383200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:49378400-49382600	Weak transcription	A549	lung
4	chr6:49378400-49383200	Weak transcription	Osteobl	bone

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