Variant report

Variant	rs72964625
Chromosome Location	chr11:93705598-93705599
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	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
2	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11020619	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11820915	0.89[EUR][1000 genomes]
rs11823303	0.91[EUR][1000 genomes]
rs11823785	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823836	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828737	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278077	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518565	0.88[EUR][1000 genomes]
rs1518566	0.88[EUR][1000 genomes]
rs1518573	0.95[EUR][1000 genomes]
rs1568259	0.89[EUR][1000 genomes]
rs16919810	0.91[EUR][1000 genomes]
rs16919815	0.91[EUR][1000 genomes]
rs16919858	0.87[EUR][1000 genomes]
rs1914723	0.89[EUR][1000 genomes]
rs2399749	0.89[EUR][1000 genomes]
rs2456556	0.82[EUR][1000 genomes]
rs2460058	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2462743	0.95[EUR][1000 genomes]
rs2511390	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4415716	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55659547	0.81[EUR][1000 genomes]
rs56355412	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56359140	0.83[EUR][1000 genomes]
rs7107851	0.91[EUR][1000 genomes]
rs72962872	0.84[EUR][1000 genomes]
rs72962880	0.82[EUR][1000 genomes]
rs72962891	0.82[EUR][1000 genomes]
rs72964608	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72964611	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964616	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964618	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964621	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964623	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964624	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964634	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964664	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964672	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964674	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964683	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964690	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964693	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72966603	1.00[ASN][1000 genomes]
rs72966608	0.91[EUR][1000 genomes]
rs72966612	0.89[EUR][1000 genomes]
rs72966637	0.91[EUR][1000 genomes]
rs7950356	0.83[EUR][1000 genomes]
rs925005	0.95[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	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72964625	HEPHL1	cis	Artery Aorta	GTEx
rs72964625	HEPHL1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93705200-93705800	Weak transcription	K562	blood
2	chr11:93705400-93705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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