Variant report

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12190495	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12202075	0.82[EUR][1000 genomes]
rs12209900	0.83[EUR][1000 genomes]
rs2086421	0.83[EUR][1000 genomes]
rs2448701	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2448702	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2448707	0.83[EUR][1000 genomes]
rs2501961	0.82[EUR][1000 genomes]
rs2501962	0.82[EUR][1000 genomes]
rs2501963	0.83[EUR][1000 genomes]
rs3729619	0.82[EUR][1000 genomes]
rs3806988	0.82[EUR][1000 genomes]
rs3823114	0.82[EUR][1000 genomes]
rs3997172	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4267943	0.83[EUR][1000 genomes]
rs4348317	0.83[EUR][1000 genomes]
rs4469291	0.83[EUR][1000 genomes]
rs4715131	0.80[EUR][1000 genomes]
rs60944851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411932	0.83[EUR][1000 genomes]
rs6458693	0.82[EUR][1000 genomes]
rs6458694	0.81[EUR][1000 genomes]
rs6901278	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7750918	0.82[EUR][1000 genomes]
rs9296617	0.81[EUR][1000 genomes]
rs9473560	0.82[EUR][1000 genomes]
rs9473561	0.82[EUR][1000 genomes]
rs9473563	0.82[EUR][1000 genomes]
rs9473566	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9473583	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3326724	chr6:49469324-49476170	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3957334	CENPQ	cis	Artery Tibial	GTEx
rs3957334	CENPQ	cis	Whole Blood	GTEx
rs3957334	CENPQ	cis	Esophagus Muscularis	GTEx
rs3957334	CENPQ	cis	lung	GTEx
rs3957334	CENPQ	Cis_1M	lymphoblastoid	RTeQTL
rs3957334	MUT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49458600-49473800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:49460400-49473200	Weak transcription	HepG2	liver
3	chr6:49460600-49473600	Weak transcription	Stomach Mucosa	stomach
4	chr6:49472400-49473200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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