Variant report

Variant	rs925005
Chromosome Location	chr11:93718763-93718764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93710641..93712864-chr11:93716292..93719148,2	K562	blood:
2	chr11:93718251..93719933-chr11:93722882..93724386,2	K562	blood:
3	chr11:93718654..93721406-chr11:93860779..93862683,2	MCF-7	breast:
4	chr11:93718444..93721972-chr11:93724685..93727460,3	K562	blood:
5	chr11:93710641..93713058-chr11:93716292..93719864,4	K562	blood:

Variant related genes	Relation type
ENSG00000110218	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11020619	0.89[EUR][1000 genomes]
rs11820915	0.87[EUR][1000 genomes]
rs11823303	0.89[EUR][1000 genomes]
rs11823785	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11823836	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11828737	0.91[EUR][1000 genomes]
rs12278077	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12281912	0.88[ASN][1000 genomes]
rs1518565	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1518566	0.88[EUR][1000 genomes]
rs1518573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568259	0.91[EUR][1000 genomes]
rs16919533	1.00[JPT][hapmap]
rs16919810	0.89[EUR][1000 genomes]
rs16919815	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16919858	0.87[EUR][1000 genomes]
rs1914723	0.91[EUR][1000 genomes]
rs2399749	0.91[EUR][1000 genomes]
rs2456556	0.84[EUR][1000 genomes]
rs2460058	0.96[EUR][1000 genomes]
rs2462743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511390	0.95[EUR][1000 genomes]
rs4415716	0.91[EUR][1000 genomes]
rs55960599	0.88[ASN][1000 genomes]
rs56355412	0.91[EUR][1000 genomes]
rs7107851	0.89[EUR][1000 genomes]
rs7127616	0.92[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs72964608	0.81[EUR][1000 genomes]
rs72964611	0.84[EUR][1000 genomes]
rs72964616	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72964618	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72964621	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72964623	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72964624	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72964625	0.95[EUR][1000 genomes]
rs72964634	0.96[EUR][1000 genomes]
rs72964664	0.94[EUR][1000 genomes]
rs72964672	0.93[EUR][1000 genomes]
rs72964674	0.91[EUR][1000 genomes]
rs72964683	0.91[EUR][1000 genomes]
rs72964690	0.91[EUR][1000 genomes]
rs72964693	0.91[EUR][1000 genomes]
rs72966608	0.89[EUR][1000 genomes]
rs72966612	0.91[EUR][1000 genomes]
rs72966637	0.89[EUR][1000 genomes]
rs9888156	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs925005	HEPHL1	cis	Artery Tibial	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93710800-93719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:93716800-93721000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:93717200-93718800	Enhancers	K562	blood
4	chr11:93717200-93719600	Weak transcription	Fetal Kidney	kidney
5	chr11:93718400-93719400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:93718400-93719400	Weak transcription	Fetal Lung	lung
7	chr11:93718400-93721000	Enhancers	HMEC	breast
8	chr11:93718600-93718800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr11:93718600-93719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:93718600-93721000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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