Variant report

Variant	rs72966612
Chromosome Location	chr11:93746156-93746157
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11020619	0.83[EUR][1000 genomes]
rs11820915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823785	0.91[EUR][1000 genomes]
rs11823836	0.93[EUR][1000 genomes]
rs11828737	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12278077	0.89[EUR][1000 genomes]
rs1518560	0.83[EUR][1000 genomes]
rs1518565	0.95[EUR][1000 genomes]
rs1518566	0.95[EUR][1000 genomes]
rs1518573	0.91[EUR][1000 genomes]
rs1568259	0.96[EUR][1000 genomes]
rs16919810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919858	0.94[EUR][1000 genomes]
rs1850656	0.83[EUR][1000 genomes]
rs1894166	0.80[EUR][1000 genomes]
rs1914723	0.96[EUR][1000 genomes]
rs1945786	0.83[EUR][1000 genomes]
rs1945787	0.83[EUR][1000 genomes]
rs2020351	0.80[EUR][1000 genomes]
rs2139089	0.83[EUR][1000 genomes]
rs2213108	0.81[EUR][1000 genomes]
rs2399749	0.96[EUR][1000 genomes]
rs2399750	0.83[EUR][1000 genomes]
rs2460049	0.83[EUR][1000 genomes]
rs2460050	0.83[EUR][1000 genomes]
rs2460058	0.90[EUR][1000 genomes]
rs2460064	0.81[EUR][1000 genomes]
rs2460069	0.83[EUR][1000 genomes]
rs2462743	0.91[EUR][1000 genomes]
rs2462757	0.80[EUR][1000 genomes]
rs2462759	0.83[EUR][1000 genomes]
rs2462763	0.83[EUR][1000 genomes]
rs2511380	0.83[EUR][1000 genomes]
rs2511390	0.89[EUR][1000 genomes]
rs2511403	0.82[EUR][1000 genomes]
rs4415716	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56355412	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7107851	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964616	0.90[EUR][1000 genomes]
rs72964618	0.88[EUR][1000 genomes]
rs72964621	0.92[EUR][1000 genomes]
rs72964623	0.92[EUR][1000 genomes]
rs72964624	0.92[EUR][1000 genomes]
rs72964625	0.89[EUR][1000 genomes]
rs72964634	0.90[EUR][1000 genomes]
rs72964664	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72964672	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72964674	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72964683	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72964690	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72964693	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72966608	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72966637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs925005	0.91[EUR][1000 genomes]
rs959342	0.83[EUR][1000 genomes]
rs959343	0.83[EUR][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	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	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
3	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72966612	HEPHL1	cis	Artery Aorta	GTEx
rs72966612	HEPHL1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93745800-93747000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93746000-93749600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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