Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93691026..93692794-chr11:93694188..93696052,2	K562	blood:
2	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:

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

rs_ID	r²[population]
rs11020619	0.82[EUR][1000 genomes]
rs12278077	0.80[EUR][1000 genomes]
rs2460058	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2511390	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55659547	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56359140	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57856352	0.83[ASN][1000 genomes]
rs60550219	1.00[ASN][1000 genomes]
rs67167563	1.00[ASN][1000 genomes]
rs67232024	0.83[ASN][1000 genomes]
rs67812366	0.83[ASN][1000 genomes]
rs67915626	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105405	1.00[ASN][1000 genomes]
rs7109132	0.83[ASN][1000 genomes]
rs72962860	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72962872	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72962891	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964608	0.84[AMR][1000 genomes]
rs72964618	0.81[EUR][1000 genomes]
rs72964621	0.80[EUR][1000 genomes]
rs72964623	0.80[EUR][1000 genomes]
rs72964624	0.80[EUR][1000 genomes]
rs72964625	0.82[EUR][1000 genomes]
rs72964634	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7927828	0.83[ASN][1000 genomes]
rs7932290	0.83[ASN][1000 genomes]
rs7934467	0.83[ASN][1000 genomes]
rs7950356	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950878	1.00[ASN][1000 genomes]
rs9888266	0.83[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	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv442	chr11:93665117-93717973	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2757466	chr11:93676224-93714950	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759854	chr11:93676224-93714950	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72962880	HEPHL1	cis	Artery Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93689000-93691600	Enhancers	Brain Germinal Matrix	brain
2	chr11:93691000-93691400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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