Variant report

Variant	rs4341591
Chromosome Location	chr12:20997393-20997394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 227 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:201)

rs_ID	r²[population]
rs1017385	0.96[EUR][1000 genomes]
rs1017386	0.96[EUR][1000 genomes]
rs1036261	0.96[EUR][1000 genomes]
rs10492339	0.96[EUR][1000 genomes]
rs10743399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1074745	0.96[EUR][1000 genomes]
rs10770749	0.97[EUR][1000 genomes]
rs10770750	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10770751	0.98[EUR][1000 genomes]
rs10770753	0.98[EUR][1000 genomes]
rs10841667	0.98[EUR][1000 genomes]
rs10841669	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10841671	0.98[EUR][1000 genomes]
rs10841672	0.96[EUR][1000 genomes]
rs10841673	0.98[EUR][1000 genomes]
rs10841674	0.98[EUR][1000 genomes]
rs10841675	0.98[EUR][1000 genomes]
rs10841676	0.98[EUR][1000 genomes]
rs10841684	0.96[EUR][1000 genomes]
rs10841686	0.96[EUR][1000 genomes]
rs10841687	0.95[EUR][1000 genomes]
rs10841688	0.95[EUR][1000 genomes]
rs10841689	0.96[EUR][1000 genomes]
rs10841690	0.91[EUR][1000 genomes]
rs11045552	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11045556	0.98[EUR][1000 genomes]
rs11045557	0.93[EUR][1000 genomes]
rs11045559	0.90[EUR][1000 genomes]
rs11045561	0.98[EUR][1000 genomes]
rs11045566	0.98[EUR][1000 genomes]
rs11045567	0.98[EUR][1000 genomes]
rs11045568	0.98[EUR][1000 genomes]
rs11045569	0.95[EUR][1000 genomes]
rs11045572	0.96[EUR][1000 genomes]
rs11045573	0.96[EUR][1000 genomes]
rs11045574	0.96[EUR][1000 genomes]
rs11045575	0.94[EUR][1000 genomes]
rs11045579	0.96[EUR][1000 genomes]
rs11045580	0.96[EUR][1000 genomes]
rs11045581	0.96[EUR][1000 genomes]
rs11045582	0.96[EUR][1000 genomes]
rs11045583	0.96[EUR][1000 genomes]
rs11494550	0.94[EUR][1000 genomes]
rs11494705	0.98[EUR][1000 genomes]
rs11494706	0.98[EUR][1000 genomes]
rs11494707	0.98[EUR][1000 genomes]
rs11494708	0.98[EUR][1000 genomes]
rs11519059	0.96[EUR][1000 genomes]
rs11612843	0.98[EUR][1000 genomes]
rs12370919	0.98[EUR][1000 genomes]
rs12422485	0.98[EUR][1000 genomes]
rs12422496	0.98[EUR][1000 genomes]
rs12425111	0.98[EUR][1000 genomes]
rs12815466	0.97[EUR][1000 genomes]
rs1304607	0.94[EUR][1000 genomes]
rs1304608	0.95[EUR][1000 genomes]
rs1399934	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1399935	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469725	0.96[EUR][1000 genomes]
rs1515768	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1515771	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549968	0.96[EUR][1000 genomes]
rs1588916	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1588917	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1606918	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1829004	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1910188	0.97[EUR][1000 genomes]
rs1966648	0.96[EUR][1000 genomes]
rs1991849	0.96[EUR][1000 genomes]
rs2017737	0.96[EUR][1000 genomes]
rs2033508	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2033509	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2033512	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2033513	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2033514	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2053095	0.96[EUR][1000 genomes]
rs2053096	0.96[EUR][1000 genomes]
rs2053097	0.96[EUR][1000 genomes]
rs2053098	0.96[EUR][1000 genomes]
rs2053099	0.96[EUR][1000 genomes]
rs2196028	0.96[EUR][1000 genomes]
rs2196029	0.96[EUR][1000 genomes]
rs2217696	0.96[EUR][1000 genomes]
rs2217697	0.96[EUR][1000 genomes]
rs2417937	0.96[EUR][1000 genomes]
rs2417938	0.96[EUR][1000 genomes]
rs2417939	0.96[EUR][1000 genomes]
rs2417940	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2417941	0.96[EUR][1000 genomes]
rs2417942	0.80[EUR][1000 genomes]
rs2417943	0.96[EUR][1000 genomes]
rs2417945	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2900473	0.96[EUR][1000 genomes]
rs2900474	0.98[EUR][1000 genomes]
rs34212364	0.98[EUR][1000 genomes]
rs3764007	0.96[EUR][1000 genomes]
rs3764008	0.96[EUR][1000 genomes]
rs3764009	0.95[EUR][1000 genomes]
rs4141476	0.99[EUR][1000 genomes]
rs4149109	0.98[EUR][1000 genomes]
rs4149110	0.98[EUR][1000 genomes]
rs4149111	0.98[EUR][1000 genomes]
rs4149112	0.97[EUR][1000 genomes]
rs4149114	0.98[EUR][1000 genomes]
rs4149115	0.98[EUR][1000 genomes]
rs4149116	0.98[EUR][1000 genomes]
rs4149117	0.98[EUR][1000 genomes]
rs4149119	0.96[EUR][1000 genomes]
rs4149122	0.96[EUR][1000 genomes]
rs4149129	0.96[EUR][1000 genomes]
rs4149130	0.96[EUR][1000 genomes]
rs4149132	0.96[EUR][1000 genomes]
rs4149133	0.96[EUR][1000 genomes]
rs4149134	0.96[EUR][1000 genomes]
rs4149141	0.96[EUR][1000 genomes]
rs4149142	0.96[EUR][1000 genomes]
rs4149145	0.95[EUR][1000 genomes]
rs4149148	0.95[EUR][1000 genomes]
rs4149153	0.90[AFR][1000 genomes]
rs4332570	0.95[EUR][1000 genomes]
rs4343075	0.98[EUR][1000 genomes]
rs4382961	0.80[EUR][1000 genomes]
rs4387401	0.98[EUR][1000 genomes]
rs4433624	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4469945	0.92[EUR][1000 genomes]
rs4509820	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4562873	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4578447	0.95[EUR][1000 genomes]
rs4762677	0.94[EUR][1000 genomes]
rs4762678	0.87[EUR][1000 genomes]
rs4762680	0.97[EUR][1000 genomes]
rs4762681	0.98[EUR][1000 genomes]
rs4762683	0.98[EUR][1000 genomes]
rs4762684	0.96[EUR][1000 genomes]
rs4762685	0.96[EUR][1000 genomes]
rs4762686	0.96[EUR][1000 genomes]
rs4762687	0.96[EUR][1000 genomes]
rs4762795	0.98[EUR][1000 genomes]
rs4762796	0.98[EUR][1000 genomes]
rs4762798	0.96[EUR][1000 genomes]
rs4762801	0.96[EUR][1000 genomes]
rs6487153	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6487155	0.98[EUR][1000 genomes]
rs6487156	0.98[EUR][1000 genomes]
rs6487159	0.98[EUR][1000 genomes]
rs6487160	0.98[EUR][1000 genomes]
rs6487161	0.98[EUR][1000 genomes]
rs6487165	0.96[EUR][1000 genomes]
rs6487166	0.96[EUR][1000 genomes]
rs6487167	0.94[EUR][1000 genomes]
rs6487168	0.96[EUR][1000 genomes]
rs6487170	0.96[EUR][1000 genomes]
rs6487171	0.96[EUR][1000 genomes]
rs7131968	0.95[EUR][1000 genomes]
rs7133099	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7133202	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7135924	0.98[EUR][1000 genomes]
rs7136918	0.94[EUR][1000 genomes]
rs7137375	0.96[EUR][1000 genomes]
rs7137416	0.96[EUR][1000 genomes]
rs7137433	0.96[EUR][1000 genomes]
rs7137499	0.96[EUR][1000 genomes]
rs7138198	0.96[EUR][1000 genomes]
rs7138316	0.96[EUR][1000 genomes]
rs7138939	0.96[EUR][1000 genomes]
rs7297884	0.98[EUR][1000 genomes]
rs7299007	0.96[EUR][1000 genomes]
rs7299670	0.96[EUR][1000 genomes]
rs7301193	0.96[EUR][1000 genomes]
rs7303743	0.98[EUR][1000 genomes]
rs7305921	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307957	0.98[EUR][1000 genomes]
rs7309891	0.96[EUR][1000 genomes]
rs7311358	0.96[EUR][1000 genomes]
rs7312103	0.98[EUR][1000 genomes]
rs73233620	0.86[ASN][1000 genomes]
rs7953377	0.98[EUR][1000 genomes]
rs7953425	0.94[EUR][1000 genomes]
rs7953968	0.90[EUR][1000 genomes]
rs7956124	0.94[EUR][1000 genomes]
rs7956242	0.84[EUR][1000 genomes]
rs7956415	0.95[EUR][1000 genomes]
rs7959792	0.96[EUR][1000 genomes]
rs7961888	0.96[EUR][1000 genomes]
rs7962678	0.96[EUR][1000 genomes]
rs7962742	0.96[EUR][1000 genomes]
rs7963069	0.96[EUR][1000 genomes]
rs7964962	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7965490	0.94[EUR][1000 genomes]
rs7966524	0.96[EUR][1000 genomes]
rs7971044	0.95[EUR][1000 genomes]
rs7978115	0.95[EUR][1000 genomes]
rs7978253	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs975653	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975654	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975655	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs975656	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975706	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9795527	0.96[EUR][1000 genomes]
rs980084	0.87[AFR][1000 genomes]
rs980085	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv17347	chr12:20892854-21029179	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1051454	chr12:20893994-20999635	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1040033	chr12:20914439-21078855	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv869995	chr12:20929531-21081863	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2758297	chr12:20942215-21117820	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759882	chr12:20942215-21117820	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv427905	chr12:20942215-21117820	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv428275	chr12:20942215-21117820	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv898859	chr12:20950737-21082276	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv898860	chr12:20964557-21015760	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
14	nsv976583	chr12:20968620-21036807	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	nsv898861	chr12:20985903-21011480	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases
16	nsv898862	chr12:20985903-21012137	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases
17	nsv898863	chr12:20985903-21015760	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
18	nsv898864	chr12:20985903-21016568	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
19	nsv898865	chr12:20985903-21034865	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
20	nsv898866	chr12:20985903-21143450	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv3409301	chr12:20986012-21293153	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv898867	chr12:20993935-21015760	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
23	nsv898868	chr12:20993935-21016568	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
24	esv3503907	chr12:20996642-21147043	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3503896	chr12:20996713-21147008	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	esv3503918	chr12:20996818-21146950	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:20996000-20997400	Weak transcription	A549	lung
2	chr12:20996000-21004800	Weak transcription	Liver	Liver

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