Variant report

Variant	rs56064609
Chromosome Location	chr7:3447451-3447452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3240198..3242825-chr7:3445733..3447901,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs11972647	0.92[EUR][1000 genomes]
rs11972733	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11973104	0.83[AFR][1000 genomes]
rs11973436	0.85[EUR][1000 genomes]
rs11973741	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11973959	0.85[EUR][1000 genomes]
rs11974237	0.85[EUR][1000 genomes]
rs11974565	0.84[EUR][1000 genomes]
rs11975560	0.91[EUR][1000 genomes]
rs11975595	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11978310	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11980041	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11981004	0.92[EUR][1000 genomes]
rs11981125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11981207	0.87[EUR][1000 genomes]
rs11981998	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11982548	0.84[EUR][1000 genomes]
rs11982674	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11983341	0.81[AMR][1000 genomes]
rs12700786	0.81[EUR][1000 genomes]
rs13236105	0.81[EUR][1000 genomes]
rs1404872	0.81[EUR][1000 genomes]
rs1522503	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17133260	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17133277	0.94[EUR][1000 genomes]
rs17133303	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17133309	0.91[EUR][1000 genomes]
rs17133324	0.94[EUR][1000 genomes]
rs17133354	0.92[EUR][1000 genomes]
rs17133377	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17133394	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17133406	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17741730	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2222407	0.92[EUR][1000 genomes]
rs2222408	0.91[EUR][1000 genomes]
rs28528961	0.87[EUR][1000 genomes]
rs34431029	0.81[EUR][1000 genomes]
rs34466031	0.81[EUR][1000 genomes]
rs34888067	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35298757	0.81[EUR][1000 genomes]
rs4268017	0.85[EUR][1000 genomes]
rs4509207	0.81[EUR][1000 genomes]
rs4560699	0.87[EUR][1000 genomes]
rs55944002	0.81[AMR][1000 genomes]
rs56138263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56175518	0.92[EUR][1000 genomes]
rs56193850	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56217543	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56331655	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57534358	0.84[EUR][1000 genomes]
rs57535226	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57585396	0.84[EUR][1000 genomes]
rs58297549	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58338081	0.81[EUR][1000 genomes]
rs59021191	0.87[EUR][1000 genomes]
rs59076306	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59296189	0.84[EUR][1000 genomes]
rs59478367	0.81[EUR][1000 genomes]
rs59673826	0.85[EUR][1000 genomes]
rs60243572	0.91[EUR][1000 genomes]
rs60418263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60682391	0.85[EUR][1000 genomes]
rs61039995	0.87[EUR][1000 genomes]
rs61401313	0.81[EUR][1000 genomes]
rs66492969	0.91[EUR][1000 genomes]
rs66540307	0.92[EUR][1000 genomes]
rs66546301	0.91[EUR][1000 genomes]
rs66664718	0.83[EUR][1000 genomes]
rs66665337	0.91[EUR][1000 genomes]
rs66790405	0.89[EUR][1000 genomes]
rs66941572	0.91[EUR][1000 genomes]
rs67404848	0.91[EUR][1000 genomes]
rs67447866	0.87[EUR][1000 genomes]
rs67498702	0.91[EUR][1000 genomes]
rs67806403	0.92[EUR][1000 genomes]
rs67924867	0.94[EUR][1000 genomes]
rs68115111	0.91[EUR][1000 genomes]
rs68165343	0.94[EUR][1000 genomes]
rs6942774	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6943523	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6944617	0.81[EUR][1000 genomes]
rs6944745	0.81[EUR][1000 genomes]
rs6945265	0.91[EUR][1000 genomes]
rs6945914	0.89[EUR][1000 genomes]
rs6946840	0.82[EUR][1000 genomes]
rs6948557	0.91[EUR][1000 genomes]
rs6952184	0.91[EUR][1000 genomes]
rs6955021	0.86[EUR][1000 genomes]
rs6959134	0.91[EUR][1000 genomes]
rs6959489	0.89[EUR][1000 genomes]
rs6962043	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6964818	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6969044	0.91[EUR][1000 genomes]
rs6969455	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6969711	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73034713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034779	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73036706	0.91[EUR][1000 genomes]
rs73036757	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73036762	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73036799	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73038513	0.85[EUR][1000 genomes]
rs73045613	0.82[AMR][1000 genomes]
rs73045637	0.82[AMR][1000 genomes]
rs73046656	0.87[EUR][1000 genomes]
rs73046658	0.87[EUR][1000 genomes]
rs73046661	0.85[EUR][1000 genomes]
rs73046682	0.87[EUR][1000 genomes]
rs73046689	0.85[EUR][1000 genomes]
rs73046694	0.84[EUR][1000 genomes]
rs73046699	0.84[EUR][1000 genomes]
rs73046702	0.84[EUR][1000 genomes]
rs73048614	0.85[EUR][1000 genomes]
rs73048617	0.87[EUR][1000 genomes]
rs73048621	0.87[EUR][1000 genomes]
rs73048624	0.87[EUR][1000 genomes]
rs73048628	0.87[EUR][1000 genomes]
rs73048630	0.87[EUR][1000 genomes]
rs73048631	0.84[EUR][1000 genomes]
rs73048634	0.87[EUR][1000 genomes]
rs73048643	0.87[EUR][1000 genomes]
rs73048645	0.84[EUR][1000 genomes]
rs73048648	0.84[EUR][1000 genomes]
rs73048655	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73048661	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73048668	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73048672	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73048676	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73048677	0.85[EUR][1000 genomes]
rs73048700	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73050503	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73050538	0.81[AMR][1000 genomes]
rs73050542	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7778916	0.91[EUR][1000 genomes]
rs7779193	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7783541	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7785207	0.94[EUR][1000 genomes]
rs7786415	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7792929	0.81[EUR][1000 genomes]
rs7807563	0.81[EUR][1000 genomes]
rs7808804	0.94[EUR][1000 genomes]
rs9771086	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	nsv1031833	chr7:3395970-3449606	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv538667	chr7:3395970-3449606	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv464269	chr7:3400105-3472721	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	nsv605899	chr7:3400105-3472721	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	nsv1022859	chr7:3404736-3479972	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	nsv1029937	chr7:3408050-3506316	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv538668	chr7:3408050-3506316	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv1019247	chr7:3411358-3449606	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	nsv538671	chr7:3411358-3449606	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	nsv1016575	chr7:3411358-3479972	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	nsv519151	chr7:3413738-3459998	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	nsv1032892	chr7:3421647-3449621	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
39	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
40	nsv887329	chr7:3424878-3490865	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
41	nsv887330	chr7:3424878-3515437	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
42	nsv887331	chr7:3434275-3475716	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
43	nsv823985	chr7:3442250-3469844	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	nsv823986	chr7:3442319-3469844	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
45	nsv818473	chr7:3445311-3464896	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
46	nsv605901	chr7:3445311-3479432	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
47	nsv1025850	chr7:3446819-3474084	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3437800-3448000	Weak transcription	Fetal Heart	heart
2	chr7:3443800-3450200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:3444400-3451800	Weak transcription	Fetal Brain Female	brain
4	chr7:3444800-3454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:3445000-3448800	Weak transcription	NHEK	skin
6	chr7:3445200-3448400	Weak transcription	Fetal Brain Male	brain
7	chr7:3446200-3449000	Weak transcription	Aorta	Aorta
8	chr7:3446800-3447600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3446800-3448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:3446800-3448400	Weak transcription	Fetal Lung	lung
11	chr7:3447000-3447600	Enhancers	Pancreas	Pancrea
12	chr7:3447000-3457000	Weak transcription	Fetal Kidney	kidney
13	chr7:3447400-3447600	Enhancers	Left Ventricle	heart

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