Variant report

Variant	rs72650853
Chromosome Location	chr8:58151473-58151474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 279 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:266)

rs_ID	r²[population]
rs10504221	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504223	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504224	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504225	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504226	1.00[ASN][1000 genomes]
rs10504227	1.00[ASN][1000 genomes]
rs10504228	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774585	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11774645	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11774697	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11774847	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11775506	0.88[EUR][1000 genomes]
rs11775568	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11781690	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11781834	0.88[EUR][1000 genomes]
rs11783444	0.87[EUR][1000 genomes]
rs11783963	0.88[EUR][1000 genomes]
rs11783965	0.88[EUR][1000 genomes]
rs11784908	0.88[EUR][1000 genomes]
rs11785258	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11785260	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11786043	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11786074	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11786340	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11786523	0.87[EUR][1000 genomes]
rs11786527	0.87[EUR][1000 genomes]
rs11786843	0.88[EUR][1000 genomes]
rs11786845	0.87[EUR][1000 genomes]
rs11787247	0.88[EUR][1000 genomes]
rs1495865	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1495866	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16920056	0.81[EUR][1000 genomes]
rs16921807	0.82[EUR][1000 genomes]
rs16921808	0.82[EUR][1000 genomes]
rs16921810	0.82[EUR][1000 genomes]
rs16921812	0.84[EUR][1000 genomes]
rs16921814	0.82[EUR][1000 genomes]
rs16921819	0.82[EUR][1000 genomes]
rs16921823	0.82[EUR][1000 genomes]
rs16921829	0.82[EUR][1000 genomes]
rs16921831	0.82[EUR][1000 genomes]
rs16921843	0.82[EUR][1000 genomes]
rs16921880	0.81[EUR][1000 genomes]
rs16921937	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16921952	1.00[ASN][1000 genomes]
rs16921955	1.00[ASN][1000 genomes]
rs16922734	0.83[EUR][1000 genomes]
rs17194529	0.83[EUR][1000 genomes]
rs17194792	0.84[EUR][1000 genomes]
rs17194995	0.85[EUR][1000 genomes]
rs17215621	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17215649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17215676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17215753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17216187	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17216236	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17216711	0.97[ASN][1000 genomes]
rs17331850	0.81[EUR][1000 genomes]
rs17802743	0.83[EUR][1000 genomes]
rs17804335	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804840	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804870	0.83[EUR][1000 genomes]
rs17804888	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805008	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805026	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805074	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805110	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805146	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805380	0.97[ASN][1000 genomes]
rs17805439	0.95[ASN][1000 genomes]
rs17816781	0.95[ASN][1000 genomes]
rs2005392	0.82[EUR][1000 genomes]
rs2014516	0.86[EUR][1000 genomes]
rs2088217	0.82[EUR][1000 genomes]
rs2101864	0.82[EUR][1000 genomes]
rs2291764	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291765	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2318143	0.82[EUR][1000 genomes]
rs2318144	0.85[EUR][1000 genomes]
rs2318145	0.82[EUR][1000 genomes]
rs2318146	0.82[EUR][1000 genomes]
rs2318147	0.86[EUR][1000 genomes]
rs2318148	0.82[EUR][1000 genomes]
rs28447218	0.97[ASN][1000 genomes]
rs2873638	0.82[EUR][1000 genomes]
rs34804288	0.82[EUR][1000 genomes]
rs34859456	0.81[EUR][1000 genomes]
rs35142596	0.85[EUR][1000 genomes]
rs35244711	0.81[EUR][1000 genomes]
rs35527749	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35840293	0.82[EUR][1000 genomes]
rs35889486	0.81[EUR][1000 genomes]
rs3814486	0.94[ASN][1000 genomes]
rs55637580	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55660024	0.86[EUR][1000 genomes]
rs55714371	0.88[EUR][1000 genomes]
rs55734109	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55764517	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55787104	0.94[ASN][1000 genomes]
rs55807014	0.88[EUR][1000 genomes]
rs55812114	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825382	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55855654	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55868006	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55986917	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56040464	0.88[EUR][1000 genomes]
rs56048296	1.00[ASN][1000 genomes]
rs56058640	0.86[EUR][1000 genomes]
rs56066782	0.82[EUR][1000 genomes]
rs56082079	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155911	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56180705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56192850	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56201056	0.82[EUR][1000 genomes]
rs56204590	0.88[EUR][1000 genomes]
rs56208052	0.88[EUR][1000 genomes]
rs56211106	0.82[EUR][1000 genomes]
rs56235637	0.82[EUR][1000 genomes]
rs56255635	0.95[ASN][1000 genomes]
rs56350499	0.95[ASN][1000 genomes]
rs56372514	1.00[ASN][1000 genomes]
rs56394419	0.86[EUR][1000 genomes]
rs56408763	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56670121	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56740825	0.95[ASN][1000 genomes]
rs56741275	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56825757	0.82[EUR][1000 genomes]
rs57131327	0.95[ASN][1000 genomes]
rs57261109	0.95[ASN][1000 genomes]
rs57669205	0.95[ASN][1000 genomes]
rs57866073	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57942497	0.97[ASN][1000 genomes]
rs58053450	0.95[ASN][1000 genomes]
rs58251024	0.95[ASN][1000 genomes]
rs58438731	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58559296	0.94[ASN][1000 genomes]
rs58715581	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58883273	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58947041	0.95[ASN][1000 genomes]
rs59034808	0.95[ASN][1000 genomes]
rs59071610	0.95[ASN][1000 genomes]
rs59528137	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59549824	0.94[ASN][1000 genomes]
rs59679713	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59797486	0.95[ASN][1000 genomes]
rs59873610	0.95[ASN][1000 genomes]
rs60454728	0.95[ASN][1000 genomes]
rs60466370	0.97[ASN][1000 genomes]
rs60651159	0.95[ASN][1000 genomes]
rs61201557	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61212428	0.95[ASN][1000 genomes]
rs61241336	0.80[EUR][1000 genomes]
rs61306359	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61364624	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61638902	0.94[ASN][1000 genomes]
rs61733801	0.95[ASN][1000 genomes]
rs61998258	0.95[ASN][1000 genomes]
rs61998259	0.95[ASN][1000 genomes]
rs66480865	0.95[ASN][1000 genomes]
rs66509078	0.95[ASN][1000 genomes]
rs66667899	0.82[EUR][1000 genomes]
rs66676208	0.95[ASN][1000 genomes]
rs66730544	0.88[EUR][1000 genomes]
rs66796009	0.95[ASN][1000 genomes]
rs66886949	0.95[ASN][1000 genomes]
rs66893068	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66936919	0.95[ASN][1000 genomes]
rs67002486	0.82[EUR][1000 genomes]
rs67035623	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67039591	0.95[ASN][1000 genomes]
rs67042991	0.94[ASN][1000 genomes]
rs67048677	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67077711	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67105789	0.95[ASN][1000 genomes]
rs67243305	0.95[ASN][1000 genomes]
rs67389108	0.94[ASN][1000 genomes]
rs67492041	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67630725	0.94[ASN][1000 genomes]
rs67677367	0.95[ASN][1000 genomes]
rs67886764	0.95[ASN][1000 genomes]
rs67895971	0.95[ASN][1000 genomes]
rs67996345	0.82[EUR][1000 genomes]
rs68076606	0.94[ASN][1000 genomes]
rs68079439	0.82[EUR][1000 genomes]
rs6980540	0.86[EUR][1000 genomes]
rs6980850	0.87[EUR][1000 genomes]
rs6981055	0.82[EUR][1000 genomes]
rs6982990	0.82[EUR][1000 genomes]
rs6984765	0.87[EUR][1000 genomes]
rs6985942	0.95[ASN][1000 genomes]
rs6987118	0.85[ASN][1000 genomes]
rs6987243	0.82[EUR][1000 genomes]
rs6989060	0.95[ASN][1000 genomes]
rs6991216	0.82[EUR][1000 genomes]
rs6993531	0.83[ASN][1000 genomes]
rs6995355	0.82[EUR][1000 genomes]
rs6995378	0.82[EUR][1000 genomes]
rs6995814	0.82[EUR][1000 genomes]
rs6998040	0.82[EUR][1000 genomes]
rs6999131	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6999351	0.86[EUR][1000 genomes]
rs6999984	0.82[EUR][1000 genomes]
rs7000349	0.82[EUR][1000 genomes]
rs7003276	0.95[ASN][1000 genomes]
rs7003285	0.95[ASN][1000 genomes]
rs7004566	0.82[EUR][1000 genomes]
rs7007128	0.95[ASN][1000 genomes]
rs7010503	0.83[ASN][1000 genomes]
rs7011877	0.83[ASN][1000 genomes]
rs7015674	1.00[ASN][1000 genomes]
rs72649187	0.82[EUR][1000 genomes]
rs72649188	0.82[EUR][1000 genomes]
rs72649192	0.85[EUR][1000 genomes]
rs72650811	0.82[EUR][1000 genomes]
rs72650827	0.87[EUR][1000 genomes]
rs72650839	0.87[EUR][1000 genomes]
rs72650847	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72650849	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72650852	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650855	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650856	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72650858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650869	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72650876	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650877	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650879	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650880	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650885	0.95[ASN][1000 genomes]
rs72650900	0.95[ASN][1000 genomes]
rs72652908	0.94[ASN][1000 genomes]
rs73603874	0.82[EUR][1000 genomes]
rs73603877	0.82[EUR][1000 genomes]
rs73605816	0.82[EUR][1000 genomes]
rs73607868	0.95[ASN][1000 genomes]
rs73607869	0.95[ASN][1000 genomes]
rs73607871	0.95[ASN][1000 genomes]
rs73607874	0.95[ASN][1000 genomes]
rs73607875	0.95[ASN][1000 genomes]
rs73609760	0.94[ASN][1000 genomes]
rs73609762	0.95[ASN][1000 genomes]
rs73609764	0.95[ASN][1000 genomes]
rs7459925	0.82[EUR][1000 genomes]
rs7460059	0.82[EUR][1000 genomes]
rs7463453	0.82[EUR][1000 genomes]
rs7813252	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7816733	0.88[EUR][1000 genomes]
rs7817188	0.88[EUR][1000 genomes]
rs7820302	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7820559	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7822631	0.88[EUR][1000 genomes]
rs7826839	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7827014	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7827881	0.88[EUR][1000 genomes]
rs7835498	0.88[EUR][1000 genomes]
rs7838958	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7839948	0.88[EUR][1000 genomes]
rs7840469	0.83[ASN][1000 genomes]
rs7843919	0.88[EUR][1000 genomes]
rs7846666	0.95[ASN][1000 genomes]
rs882429	0.88[EUR][1000 genomes]
rs903702	0.86[EUR][1000 genomes]
rs903706	0.86[EUR][1000 genomes]
rs949856	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv12840	chr8:58046936-58196713	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3432915	chr8:58055026-58271178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1793550	chr8:58063507-58215957	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1804272	chr8:58063507-58215957	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1814738	chr8:58063507-58215957	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv428200	chr8:58063507-58215957	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1034068	chr8:58078547-58161439	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1028917	chr8:58080796-58158408	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv831321	chr8:58086885-58237744	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv12323	chr8:58114793-58199474	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58151000-58152600	Weak transcription	Fetal Lung	lung

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