Variant report

Variant	rs2815752
Chromosome Location	chr1:72812440-72812441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10789336	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11209948	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209951	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11209952	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11584611	0.81[CHB][hapmap]
rs12137231	0.84[GIH][hapmap]
rs1380995	0.81[CHB][hapmap]
rs1432639	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1460942	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1460943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1776012	0.81[CHB][hapmap];0.84[GIH][hapmap]
rs1841499	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1870676	0.84[GIH][hapmap]
rs2568955	1.00[JPT][hapmap]
rs2568958	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2568960	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568961	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613494	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815753	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101336	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3101338	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs3101340	0.81[CHB][hapmap];0.84[GIH][hapmap]
rs9424977	0.81[CHB][hapmap];0.84[GIH][hapmap]
rs990871	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1014832	chr1:72642420-72823477	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv534997	chr1:72642420-72823477	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1835472	chr1:72720026-72820015	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1376	chr1:72734578-72823386	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv254	chr1:72734991-72823194	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1007101	chr1:72740734-72812440	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1011285	chr1:72740734-72818878	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv2757734	chr1:72742396-72886813	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2758939	chr1:72742396-72886813	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3491557	chr1:72742853-72851634	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3491558	chr1:72742853-72851634	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv997689	chr1:72746521-72812440	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv2764234	chr1:72746533-72812440	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1838701	chr1:72749848-72812440	Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1012292	chr1:72749848-72812440	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1001416	chr1:72749848-72817009	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1008566	chr1:72749848-72820015	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv2762743	chr1:72749848-72822836	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv830204	chr1:72749851-72938571	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv1817121	chr1:72758654-72812732	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv1802478	chr1:72762522-72812732	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv1845855	chr1:72762565-72834503	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
24	nsv1000773	chr1:72762664-72812440	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
25	nsv1008107	chr1:72762664-72817009	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
26	nsv508282	chr1:72763092-72819598	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
27	nsv1005131	chr1:72763358-72812440	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
28	esv1798808	chr1:72764357-72812732	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
29	esv1808269	chr1:72764357-72812732	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
30	esv3319310	chr1:72764364-72813762	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
31	esv1813922	chr1:72765059-72812732	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
32	nsv437217	chr1:72765116-72812440	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
33	nsv437218	chr1:72765116-72812440	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
34	nsv437219	chr1:72765116-72812440	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
35	nsv437223	chr1:72765116-72812440	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
36	esv3499874	chr1:72765164-72812962	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
37	esv3319313	chr1:72765389-72813237	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
38	esv3499664	chr1:72765614-72812862	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
39	esv2480676	chr1:72765880-72812486	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
40	nsv435862	chr1:72765880-72813079	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
41	nsv436617	chr1:72766105-72814366	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
42	nsv10250	chr1:72766119-72812679	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
43	esv1811839	chr1:72766413-72812440	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
44	esv1814486	chr1:72766413-72814783	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
45	esv1792886	chr1:72766555-72812894	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
46	esv1793585	chr1:72766555-72812894	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
47	esv3499662	chr1:72766980-72813410	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
48	esv3351615	chr1:72766980-72816627	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
49	esv1804179	chr1:72767058-72814783	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
50	esv1810542	chr1:72767058-72814783	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Body mass index	20935630	GWAS catalog
Body mass index	19079261	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2815752	ASB17	cis	parietal	SCAN
rs2815752	RP11-292O17.1	cis	Nerve Tibial	GTEx
rs2815752	RP11-292O17.1	cis	Thyroid	GTEx
rs2815752	SNORD45A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72811400-72813400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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