Variant report

Variant	rs9463493
Chromosome Location	chr6:49480339-49480340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49477846..49480791-chr6:49486673..49489629,2	MCF-7	breast:
2	chr6:49479989..49482907-chr6:49513831..49515796,2	K562	blood:
3	chr6:49477015..49478603-chr6:49479650..49481514,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10755760	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12214753	0.88[AFR][1000 genomes]
rs1471539	0.84[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs1480614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480615	0.92[AFR][1000 genomes]
rs2127755	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2396911	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2501965	0.87[ASN][1000 genomes]
rs2501966	0.94[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs2501968	0.90[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs4367370	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7453050	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357618	0.81[AFR][1000 genomes]
rs9367357	0.92[AFR][1000 genomes]
rs9369904	0.89[AFR][1000 genomes]
rs9381791	0.91[AFR][1000 genomes]
rs9381792	0.94[AFR][1000 genomes]
rs9395499	0.82[AFR][1000 genomes]
rs9395500	0.84[AFR][1000 genomes]
rs9463489	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9463491	0.91[AFR][1000 genomes]
rs9463492	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9473568	0.85[CHB][hapmap];0.83[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3398270	chr6:49468042-49488082	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9463493	CENPQ	cis	Artery Tibial	GTEx
rs9463493	CENPQ	cis	lung	GTEx
rs9463493	CENPQ	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49475200-49481000	Weak transcription	Stomach Mucosa	stomach
2	chr6:49479200-49481000	Enhancers	Liver	Liver
3	chr6:49480200-49480600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:49480200-49482400	Enhancers	HepG2	liver

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