Variant report

Variant	rs1518573
Chromosome Location	chr11:93717959-93717960
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	chr11:93710641..93712864-chr11:93716292..93719148,2	K562	blood:
2	chr11:93710641..93713058-chr11:93716292..93719864,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

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	0.90[EUR][1000 genomes]
rs1518566	0.88[EUR][1000 genomes]
rs1568259	0.91[EUR][1000 genomes]
rs16919810	0.89[EUR][1000 genomes]
rs16919815	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	1.00[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	0.88[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]
rs925005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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	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
rs1518573	HEPHL1	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 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	chr11:93716800-93721000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:93717200-93718800	Enhancers	K562	blood
5	chr11:93717200-93719600	Weak transcription	Fetal Kidney	kidney

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