Variant report

Variant	rs1518565
Chromosome Location	chr11:93765430-93765431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93753591..93755146-chr11:93763747..93766351,2	K562	blood:

Variant related genes	Relation type
ENSG00000181333	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11020619	0.82[EUR][1000 genomes]
rs11820915	0.95[EUR][1000 genomes]
rs11823303	0.97[EUR][1000 genomes]
rs11823785	0.86[EUR][1000 genomes]
rs11823836	0.88[EUR][1000 genomes]
rs11828737	0.95[EUR][1000 genomes]
rs12278077	0.85[EUR][1000 genomes]
rs12279295	0.88[ASN][1000 genomes]
rs1518560	0.82[EUR][1000 genomes]
rs1518566	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1518573	0.90[EUR][1000 genomes]
rs1568259	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919810	0.97[EUR][1000 genomes]
rs16919815	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs16919858	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850656	0.82[EUR][1000 genomes]
rs1914723	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1945786	0.82[EUR][1000 genomes]
rs1945787	0.82[EUR][1000 genomes]
rs2139089	0.82[EUR][1000 genomes]
rs2213108	0.80[EUR][1000 genomes]
rs2399749	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2399750	0.82[EUR][1000 genomes]
rs2460049	0.82[EUR][1000 genomes]
rs2460050	0.82[EUR][1000 genomes]
rs2460058	0.90[EUR][1000 genomes]
rs2460064	0.80[EUR][1000 genomes]
rs2460069	0.82[EUR][1000 genomes]
rs2462743	0.90[EUR][1000 genomes]
rs2462759	0.82[EUR][1000 genomes]
rs2462763	0.82[EUR][1000 genomes]
rs2511380	0.82[EUR][1000 genomes]
rs2511390	0.88[EUR][1000 genomes]
rs2511403	0.83[EUR][1000 genomes]
rs4415716	0.95[EUR][1000 genomes]
rs56355412	0.95[EUR][1000 genomes]
rs7107851	0.97[EUR][1000 genomes]
rs72964616	0.85[EUR][1000 genomes]
rs72964618	0.83[EUR][1000 genomes]
rs72964621	0.87[EUR][1000 genomes]
rs72964623	0.87[EUR][1000 genomes]
rs72964624	0.87[EUR][1000 genomes]
rs72964625	0.88[EUR][1000 genomes]
rs72964634	0.90[EUR][1000 genomes]
rs72964664	0.89[EUR][1000 genomes]
rs72964672	0.93[EUR][1000 genomes]
rs72964674	0.95[EUR][1000 genomes]
rs72964683	0.95[EUR][1000 genomes]
rs72964690	0.95[EUR][1000 genomes]
rs72964693	0.95[EUR][1000 genomes]
rs72966608	0.97[EUR][1000 genomes]
rs72966612	0.95[EUR][1000 genomes]
rs72966637	0.97[EUR][1000 genomes]
rs925005	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs959342	0.82[EUR][1000 genomes]
rs959343	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1518565	HEPHL1	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93763200-93767400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:93763600-93767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93763800-93766200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:93763800-93767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:93764000-93767000	Weak transcription	HMEC	breast
6	chr11:93764000-93767000	Weak transcription	NHEK	skin
7	chr11:93765200-93765600	Enhancers	Fetal Muscle Leg	muscle

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