Variant report

Variant	rs11975560
Chromosome Location	chr7:3395949-3395950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs11972647	0.83[EUR][1000 genomes]
rs11973436	0.94[EUR][1000 genomes]
rs11973741	0.87[EUR][1000 genomes]
rs11973959	0.94[EUR][1000 genomes]
rs11974237	0.94[EUR][1000 genomes]
rs11974565	0.93[EUR][1000 genomes]
rs11975595	0.91[EUR][1000 genomes]
rs11978310	0.85[EUR][1000 genomes]
rs11979270	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11981004	0.84[EUR][1000 genomes]
rs11981125	0.87[EUR][1000 genomes]
rs11981207	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11981998	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11982674	0.94[EUR][1000 genomes]
rs12700786	0.86[EUR][1000 genomes]
rs12700790	0.84[EUR][1000 genomes]
rs12700791	0.84[EUR][1000 genomes]
rs13236105	0.86[EUR][1000 genomes]
rs1404872	0.86[EUR][1000 genomes]
rs1522503	0.94[EUR][1000 genomes]
rs17133260	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17133277	0.85[EUR][1000 genomes]
rs17133303	0.87[EUR][1000 genomes]
rs17133309	0.82[EUR][1000 genomes]
rs17133324	0.85[EUR][1000 genomes]
rs17133354	0.84[EUR][1000 genomes]
rs17741730	0.87[EUR][1000 genomes]
rs1961404	0.82[EUR][1000 genomes]
rs2222407	0.84[EUR][1000 genomes]
rs2222408	0.82[EUR][1000 genomes]
rs2334059	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34431029	0.86[EUR][1000 genomes]
rs34466031	0.86[EUR][1000 genomes]
rs35298757	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4268017	0.94[EUR][1000 genomes]
rs4509207	0.91[EUR][1000 genomes]
rs4560699	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56064609	0.91[EUR][1000 genomes]
rs56138263	0.91[EUR][1000 genomes]
rs56175518	0.84[EUR][1000 genomes]
rs56193850	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56217543	0.87[EUR][1000 genomes]
rs56331655	0.87[EUR][1000 genomes]
rs57427044	0.82[EUR][1000 genomes]
rs57534358	0.93[EUR][1000 genomes]
rs57535226	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57585396	0.93[EUR][1000 genomes]
rs58297549	0.87[EUR][1000 genomes]
rs58338081	0.86[EUR][1000 genomes]
rs59021191	0.96[EUR][1000 genomes]
rs59076306	0.94[EUR][1000 genomes]
rs59296189	0.93[EUR][1000 genomes]
rs59478367	0.86[EUR][1000 genomes]
rs59673826	0.94[EUR][1000 genomes]
rs60243572	0.89[EUR][1000 genomes]
rs60418263	0.94[EUR][1000 genomes]
rs60682391	0.94[EUR][1000 genomes]
rs61039995	0.96[EUR][1000 genomes]
rs61401313	0.86[EUR][1000 genomes]
rs66492969	0.82[EUR][1000 genomes]
rs66540307	0.84[EUR][1000 genomes]
rs66546301	0.89[EUR][1000 genomes]
rs66665337	0.89[EUR][1000 genomes]
rs66790405	0.84[EUR][1000 genomes]
rs66941572	0.82[EUR][1000 genomes]
rs67404848	0.82[EUR][1000 genomes]
rs67447866	0.96[EUR][1000 genomes]
rs67461903	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67498702	0.89[EUR][1000 genomes]
rs67637487	0.84[EUR][1000 genomes]
rs67806403	0.84[EUR][1000 genomes]
rs67924867	0.85[EUR][1000 genomes]
rs68092516	0.80[EUR][1000 genomes]
rs68115111	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68165343	0.85[EUR][1000 genomes]
rs6942774	0.89[EUR][1000 genomes]
rs6943523	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6944617	0.86[EUR][1000 genomes]
rs6944745	0.86[EUR][1000 genomes]
rs6945265	0.82[EUR][1000 genomes]
rs6945914	0.87[EUR][1000 genomes]
rs6946840	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6948557	0.89[EUR][1000 genomes]
rs6952184	0.89[EUR][1000 genomes]
rs6955021	0.95[EUR][1000 genomes]
rs6959134	0.89[EUR][1000 genomes]
rs6959489	0.80[EUR][1000 genomes]
rs6962043	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6964818	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6969044	0.89[EUR][1000 genomes]
rs6969455	0.94[EUR][1000 genomes]
rs6969711	0.85[EUR][1000 genomes]
rs73034713	0.91[EUR][1000 genomes]
rs73034779	0.89[EUR][1000 genomes]
rs73036706	0.82[EUR][1000 genomes]
rs73036757	0.85[EUR][1000 genomes]
rs73036762	0.84[EUR][1000 genomes]
rs73045613	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73045637	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73046618	0.84[EUR][1000 genomes]
rs73046656	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73046658	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73046661	0.94[EUR][1000 genomes]
rs73046682	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73046689	0.94[EUR][1000 genomes]
rs73046694	0.93[EUR][1000 genomes]
rs73046699	0.93[EUR][1000 genomes]
rs73046702	0.93[EUR][1000 genomes]
rs73048614	0.94[EUR][1000 genomes]
rs73048617	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048621	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048624	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048628	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048630	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048631	0.93[EUR][1000 genomes]
rs73048634	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048643	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048645	0.93[EUR][1000 genomes]
rs73048648	0.93[EUR][1000 genomes]
rs73048655	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048661	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048668	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048672	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73048676	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73048677	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73048700	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73050503	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7778916	0.82[EUR][1000 genomes]
rs7779193	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7782339	0.84[EUR][1000 genomes]
rs7783541	0.94[EUR][1000 genomes]
rs7785207	0.85[EUR][1000 genomes]
rs7786415	0.85[EUR][1000 genomes]
rs7792929	0.86[EUR][1000 genomes]
rs7807563	0.86[EUR][1000 genomes]
rs7808804	0.85[EUR][1000 genomes]
rs9771086	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv887324	chr7:3308195-3400105	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv605892	chr7:3341589-3424878	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1020764	chr7:3348458-3554820	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv538662	chr7:3348458-3554820	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1019492	chr7:3359294-3479972	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv538663	chr7:3359294-3479972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2757204	chr7:3359491-3460355	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1028585	chr7:3364990-3400105	Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1030484	chr7:3364990-3506102	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1018105	chr7:3365441-3506102	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1026361	chr7:3366960-3502600	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv538664	chr7:3366960-3502600	Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv605893	chr7:3368197-3505231	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv887325	chr7:3373820-3418411	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv887326	chr7:3374848-3418411	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv1034410	chr7:3377927-3434703	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	nsv1020442	chr7:3378394-3408268	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1033448	chr7:3378394-3433229	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv538665	chr7:3378394-3433229	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv464268	chr7:3381789-3413867	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv605894	chr7:3381789-3413867	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv605895	chr7:3381789-3431050	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv519027	chr7:3381789-3434275	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv605896	chr7:3381789-3434275	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1020542	chr7:3381813-3434703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1015296	chr7:3381813-3560401	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	nsv437530	chr7:3383603-3445311	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	esv2753963	chr7:3383603-3455249	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	nsv605897	chr7:3384144-3415946	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv605898	chr7:3384144-3434275	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv981826	chr7:3384313-3413979	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv8031	chr7:3391964-3470279	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
42	nsv437980	chr7:3392526-3427014	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv3692919	chr7:3393170-3451251	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	nsv887327	chr7:3393170-3472464	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
45	nsv1033720	chr7:3395067-3427190	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1024282	chr7:3395067-3439211	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv1021342	chr7:3395067-3452177	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
48	nsv1033743	chr7:3395234-3494122	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3386000-3410400	Weak transcription	Pancreas	Pancrea
2	chr7:3386200-3408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3393600-3402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3395400-3396200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:3395600-3396000	Enhancers	Colon Smooth Muscle	Colon

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