Variant report

Variant	rs2460058
Chromosome Location	chr11:93714059-93714060
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11020619	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11820915	0.90[EUR][1000 genomes]
rs11823303	0.93[EUR][1000 genomes]
rs11823785	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823836	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828737	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278077	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518565	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1518566	0.90[EUR][1000 genomes]
rs1518573	0.96[EUR][1000 genomes]
rs1568259	0.90[EUR][1000 genomes]
rs16919810	0.93[EUR][1000 genomes]
rs16919815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs16919858	0.88[EUR][1000 genomes]
rs1914723	0.90[EUR][1000 genomes]
rs2213108	0.80[EUR][1000 genomes]
rs2399749	0.90[EUR][1000 genomes]
rs2456556	0.81[EUR][1000 genomes]
rs2460064	0.80[EUR][1000 genomes]
rs2462743	0.96[EUR][1000 genomes]
rs2511390	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511403	0.81[CEU][hapmap]
rs4415716	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55659547	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56355412	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56359140	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67915626	0.84[AMR][1000 genomes]
rs7107851	0.93[EUR][1000 genomes]
rs72962860	0.82[AMR][1000 genomes]
rs72962872	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72962880	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72962891	0.81[EUR][1000 genomes]
rs72964608	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72964611	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964616	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964618	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964621	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964623	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964624	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964625	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964634	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964664	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964672	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964674	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964683	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964690	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964693	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72966603	1.00[ASN][1000 genomes]
rs72966608	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72966612	0.90[EUR][1000 genomes]
rs72966637	0.93[EUR][1000 genomes]
rs7950356	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs925005	1.00[CEU][hapmap];0.96[EUR][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	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
2	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
3	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
4	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
5	nsv555965	chr11:93713911-93747735	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2460058	HEPHL1	cis	Artery Tibial	GTEx
rs2460058	HEPHL1	cis	Artery Aorta	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93710800-93718600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93710800-93719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:93714000-93716800	Enhancers	K562	blood

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