Variant report

Variant	rs72964608
Chromosome Location	chr11:93701461-93701462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
2	chr11:93699154..93702139-chr11:93715372..93717196,2	K562	blood:
3	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11020619	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820915	0.82[EUR][1000 genomes]
rs11823785	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11823836	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11828737	0.82[EUR][1000 genomes]
rs12278077	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1518573	0.81[EUR][1000 genomes]
rs2460058	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2462743	0.81[EUR][1000 genomes]
rs2511390	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4415716	0.82[EUR][1000 genomes]
rs56355412	0.82[EUR][1000 genomes]
rs72962872	0.81[AMR][1000 genomes]
rs72962880	0.84[AMR][1000 genomes]
rs72964611	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72964616	0.84[EUR][1000 genomes]
rs72964618	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72964621	0.84[EUR][1000 genomes]
rs72964623	0.84[EUR][1000 genomes]
rs72964624	0.84[EUR][1000 genomes]
rs72964625	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72964634	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72964664	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72964672	0.82[EUR][1000 genomes]
rs72964674	0.82[EUR][1000 genomes]
rs72964683	0.82[EUR][1000 genomes]
rs72964690	0.82[EUR][1000 genomes]
rs72964693	0.82[EUR][1000 genomes]
rs925005	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:47 , 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
6	esv2760207	chr11:93692312-93701588	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3495079	chr11:93694004-93703302	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3495078	chr11:93694454-93703152	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2511618	chr11:93694604-93702872	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv8864	chr11:93694672-93702559	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1819337	chr11:93694753-93702531	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2590394	chr11:93695003-93702250	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv2333689	chr11:93695030-93702267	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv1818695	chr11:93695035-93702205	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3464653	chr11:93695081-93702187	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3495076	chr11:93695102-93702167	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3495077	chr11:93695105-93702131	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3495080	chr11:93695133-93702127	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3464631	chr11:93695137-93702153	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3464675	chr11:93695137-93702159	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3464642	chr11:93695155-93702115	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv826040	chr11:93695199-93702072	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3464664	chr11:93695207-93702089	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3495081	chr11:93695217-93702088	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv498768	chr11:93695220-93702086	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3464686	chr11:93695221-93702086	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3495082	chr11:93695221-93702086	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1821420	chr11:93695235-93703637	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv826041	chr11:93695241-93702019	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv19664	chr11:93695267-93702056	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1816641	chr11:93695311-93702069	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1817515	chr11:93695311-93702069	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1818710	chr11:93695311-93702069	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1819122	chr11:93695311-93702069	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1821766	chr11:93695311-93702069	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1819218	chr11:93695311-93702435	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1822151	chr11:93695311-93702435	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv1822360	chr11:93695311-93702435	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv514641	chr11:93695496-93701952	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv983209	chr11:93695606-93702578	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv826043	chr11:93695761-93702019	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv826044	chr11:93695761-93702072	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv2761698	chr11:93697936-93701588	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	esv1815601	chr11:93698056-93701592	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	esv1818303	chr11:93698056-93701592	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv442240	chr11:93698056-93701592	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	esv2422141	chr11:93698060-93702069	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72964608	HEPHL1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93701400-93701800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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