Variant report

Variant	rs58747556
Chromosome Location	chr8:46906167-46906168
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10093128	1.00[EUR][1000 genomes]
rs11985637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986727	1.00[EUR][1000 genomes]
rs11986762	1.00[AMR][1000 genomes]
rs11987241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987346	0.85[AFR][1000 genomes];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	0.90[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995454	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995763	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996398	1.00[EUR][1000 genomes]
rs11997366	0.83[AFR][1000 genomes];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]
rs56712307	1.00[AMR][1000 genomes]
rs56922327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58337750	0.85[AFR][1000 genomes];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]
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]
rs59987018	0.81[AFR][1000 genomes]
rs60221155	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61425446	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7293689	1.00[EUR][1000 genomes]
rs73562706	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562708	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562715	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562729	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562737	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562738	0.85[AFR][1000 genomes];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]
rs73568661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73568671	1.00[EUR][1000 genomes]
rs73568674	1.00[EUR][1000 genomes]
rs73568675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73568681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73568682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73568684	1.00[AMR][1000 genomes];1.00[EUR][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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574735	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574739	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574765	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574766	0.90[AFR][1000 genomes]
rs73574769	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574771	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574774	0.90[AFR][1000 genomes]
rs73576744	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576753	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576761	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73576767	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578705	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578707	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578719	0.90[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580816	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580817	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580842	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580851	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580858	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580859	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73580862	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580865	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580866	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580870	0.85[AFR][1000 genomes];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:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026441	chr8:46847522-46912015	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	esv3332176	chr8:46905587-46909885	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46896800-46911200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr8:46901400-46908200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr8:46901800-46911400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:46902400-46908200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr8:46903400-46906600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:46903400-46907600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:46903600-46907600	Weak transcription	HUVEC	blood vessel

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