Variant report

Variant	rs73574756
Chromosome Location	chr8:46925700-46925701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10093128	1.00[EUR][1000 genomes]
rs11986727	1.00[EUR][1000 genomes]
rs11986762	1.00[AMR][1000 genomes]
rs11987346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987565	1.00[EUR][1000 genomes]
rs11988704	1.00[AMR][1000 genomes]
rs11989638	1.00[AMR][1000 genomes]
rs11989667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990083	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990551	1.00[AMR][1000 genomes]
rs11992912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994742	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995763	1.00[AMR][1000 genomes]
rs11997366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998441	1.00[AMR][1000 genomes]
rs11998481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114825	1.00[EUR][1000 genomes]
rs28896841	1.00[EUR][1000 genomes]
rs3913113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56712307	1.00[AMR][1000 genomes]
rs56922327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57451050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58337750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58391227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58504143	1.00[EUR][1000 genomes]
rs58747556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58794681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59515337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59538766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59760776	1.00[AMR][1000 genomes]
rs59871202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60221155	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61425446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562706	1.00[AMR][1000 genomes]
rs73562708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562774	1.00[AMR][1000 genomes]
rs73562777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564508	1.00[AMR][1000 genomes]
rs73564510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564531	1.00[AMR][1000 genomes]
rs73564547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564549	1.00[AMR][1000 genomes]
rs73570610	1.00[AMR][1000 genomes]
rs73570618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570621	1.00[EUR][1000 genomes]
rs73570622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570629	1.00[EUR][1000 genomes]
rs73570632	1.00[EUR][1000 genomes]
rs73570636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570648	1.00[EUR][1000 genomes]
rs73570650	1.00[EUR][1000 genomes]
rs73570660	1.00[AMR][1000 genomes]
rs73570662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73572605	1.00[AMR][1000 genomes]
rs73572610	1.00[AMR][1000 genomes]
rs73572659	1.00[AMR][1000 genomes]
rs73574733	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574735	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574739	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574765	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574766	0.84[AFR][1000 genomes]
rs73574769	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574771	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574774	0.84[AFR][1000 genomes]
rs73576744	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576746	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576761	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73576767	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578705	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578707	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578716	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578719	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578748	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580816	1.00[AMR][1000 genomes]
rs73580817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580859	1.00[EUR][1000 genomes]
rs73580862	1.00[AMR][1000 genomes]
rs73580865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580866	1.00[AMR][1000 genomes]
rs73580870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73677411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8185879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031442	chr8:46847522-46927075	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv1018446	chr8:46847522-46933024	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv1034986	chr8:46847522-46936604	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1033056	chr8:46847522-46954695	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv1017900	chr8:46847522-47024380	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1028273	chr8:46847522-47063432	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1022441	chr8:46847522-47175405	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1020385	chr8:46847522-47199227	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1026941	chr8:46847522-47203990	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1031996	chr8:46847522-47361594	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1018413	chr8:46847522-47436605	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1030943	chr8:46847522-47517000	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1031244	chr8:46847522-47735165	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1032451	chr8:46847522-47743250	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1018479	chr8:46847522-47776897	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv2761184	chr8:46847534-47743262	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv428199	chr8:46868542-47280620	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	esv2829896	chr8:46896972-47287147	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv611229	chr8:46902917-47439358	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	nsv1034366	chr8:46912015-47024380	ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv1015309	chr8:46912015-47175405	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
22	nsv1029184	chr8:46919261-46954695	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
23	nsv1031161	chr8:46919261-47743250	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv482381	chr8:46919587-47083265	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv1015995	chr8:46923272-46965659	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	nsv1022146	chr8:46923272-47087379	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	nsv1023272	chr8:46923272-47171849	ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
28	nsv539579	chr8:46923272-47171849	ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
29	nsv1025743	chr8:46923272-47239316	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
30	nsv1019878	chr8:46923272-47271717	Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
31	nsv1025218	chr8:46923272-47285399	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
32	nsv1033231	chr8:46923272-47361594	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
33	nsv1020527	chr8:46923272-47432672	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
34	nsv539580	chr8:46923272-47432672	Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
35	nsv1029976	chr8:46923272-47555196	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
36	nsv1021368	chr8:46923272-47599637	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
37	nsv539581	chr8:46923272-47599637	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
38	nsv1034114	chr8:46923272-47698142	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
39	nsv539582	chr8:46923272-47698142	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
40	nsv1025020	chr8:46924110-47743250	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46922400-46925800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:46923200-46926000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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