Variant report

Variant	rs2815748
Chromosome Location	chr1:72816147-72816148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1993709	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590943	0.80[EUR][1000 genomes]
rs2613503	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613504	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613505	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613507	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613508	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv1845855	chr1:72762565-72834503	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
17	nsv1008107	chr1:72762664-72817009	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
18	nsv508282	chr1:72763092-72819598	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv3351615	chr1:72766980-72816627	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
20	nsv1011218	chr1:72768486-72816755	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
21	nsv1004497	chr1:72768486-72817009	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
22	nsv1007534	chr1:72768486-72818587	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
23	nsv999230	chr1:72768486-72820015	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
24	nsv1012131	chr1:72768486-72822785	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
25	nsv1012282	chr1:72768486-72827966	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
26	nsv1000010	chr1:72768904-72816755	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
27	nsv1009774	chr1:72768904-72817009	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv1001735	chr1:72768904-72818587	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
29	nsv1006832	chr1:72768904-72820015	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv870374	chr1:72768914-72817094	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
31	nsv997901	chr1:72768924-72816755	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
32	nsv1005957	chr1:72768924-72817009	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
33	nsv1010041	chr1:72768924-72818878	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
34	nsv1001710	chr1:72768924-72820015	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
35	esv3584809	chr1:72768936-72844844	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
36	nsv1013587	chr1:72771131-72816755	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
37	nsv1008476	chr1:72771131-72817009	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
38	nsv1009188	chr1:72771355-72816755	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
39	nsv1003047	chr1:72771355-72817009	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
40	nsv1005530	chr1:72771506-72817009	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
41	nsv947113	chr1:72810737-72948614	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72816000-72816400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:72816000-72816600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:72816000-72816600	Enhancers	NHEK	skin

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