Variant report

Variant	rs2117034
Chromosome Location	chr12:21077856-21077857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10743404	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1075138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770759	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770761	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841706	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841707	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841708	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841711	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841714	0.92[EUR][1000 genomes]
rs10841715	0.92[EUR][1000 genomes]
rs11045595	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124251	0.91[ASN][1000 genomes]
rs11513403	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11524501	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11531033	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829290	0.93[ASN][1000 genomes]
rs11829690	0.93[ASN][1000 genomes]
rs11831644	0.93[ASN][1000 genomes]
rs11832474	0.93[ASN][1000 genomes]
rs11833871	0.93[ASN][1000 genomes]
rs11834518	0.93[ASN][1000 genomes]
rs11835914	0.93[ASN][1000 genomes]
rs11836466	0.93[ASN][1000 genomes]
rs11837229	0.93[ASN][1000 genomes]
rs11837244	0.93[ASN][1000 genomes]
rs12316986	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1303772	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316841	0.93[ASN][1000 genomes]
rs1549970	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549971	0.86[ASN][1000 genomes]
rs1865159	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910198	0.93[ASN][1000 genomes]
rs1910199	0.93[ASN][1000 genomes]
rs2082520	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082521	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117031	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117033	0.98[EUR][1000 genomes]
rs2163906	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2196019	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196023	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34759450	0.93[ASN][1000 genomes]
rs4423235	0.93[ASN][1000 genomes]
rs4424716	0.93[ASN][1000 genomes]
rs4544054	0.93[ASN][1000 genomes]
rs4544055	0.93[ASN][1000 genomes]
rs4551819	0.93[ASN][1000 genomes]
rs4623954	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762688	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762691	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4762806	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762810	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55637470	0.93[ASN][1000 genomes]
rs55680345	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56043560	0.95[ASN][1000 genomes]
rs56071009	0.82[ASN][1000 genomes]
rs57290786	0.91[ASN][1000 genomes]
rs57395020	0.93[ASN][1000 genomes]
rs57609545	0.93[ASN][1000 genomes]
rs57750898	0.93[ASN][1000 genomes]
rs57817350	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57921509	0.93[ASN][1000 genomes]
rs58267931	0.93[ASN][1000 genomes]
rs58335850	0.93[ASN][1000 genomes]
rs58431010	0.93[ASN][1000 genomes]
rs58721649	0.93[ASN][1000 genomes]
rs59268129	0.95[ASN][1000 genomes]
rs59953875	0.93[ASN][1000 genomes]
rs60276135	0.93[ASN][1000 genomes]
rs60549369	0.95[ASN][1000 genomes]
rs60785809	0.93[ASN][1000 genomes]
rs61001638	0.95[ASN][1000 genomes]
rs61056071	0.93[ASN][1000 genomes]
rs61104454	0.93[ASN][1000 genomes]
rs6487175	0.96[EUR][1000 genomes]
rs6487176	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487177	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487195	0.93[ASN][1000 genomes]
rs6487196	0.93[ASN][1000 genomes]
rs6487198	0.93[ASN][1000 genomes]
rs6487199	0.93[ASN][1000 genomes]
rs6487200	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6487201	0.93[ASN][1000 genomes]
rs7131894	0.93[ASN][1000 genomes]
rs7131990	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134708	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137186	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7296844	0.93[ASN][1000 genomes]
rs7297193	0.93[ASN][1000 genomes]
rs7297244	0.93[ASN][1000 genomes]
rs7300264	0.93[ASN][1000 genomes]
rs7312051	0.82[ASN][1000 genomes]
rs7313423	0.93[ASN][1000 genomes]
rs7314046	0.93[ASN][1000 genomes]
rs7314316	0.93[ASN][1000 genomes]
rs73233671	0.82[ASN][1000 genomes]
rs73233699	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73235713	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73237643	0.93[ASN][1000 genomes]
rs73237653	0.93[ASN][1000 genomes]
rs73244197	0.93[ASN][1000 genomes]
rs73244198	0.93[ASN][1000 genomes]
rs73245804	0.93[ASN][1000 genomes]
rs73245805	0.93[ASN][1000 genomes]
rs73245813	0.93[ASN][1000 genomes]
rs73245815	0.93[ASN][1000 genomes]
rs73245816	0.93[ASN][1000 genomes]
rs73245817	0.93[ASN][1000 genomes]
rs73245820	0.93[ASN][1000 genomes]
rs73245822	0.93[ASN][1000 genomes]
rs73245826	0.93[ASN][1000 genomes]
rs73245828	0.93[ASN][1000 genomes]
rs73245831	0.93[ASN][1000 genomes]
rs73245834	0.93[ASN][1000 genomes]
rs73245838	0.93[ASN][1000 genomes]
rs7485322	0.98[EUR][1000 genomes]
rs7488975	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953489	0.93[ASN][1000 genomes]
rs7953675	0.93[ASN][1000 genomes]
rs7953984	0.93[ASN][1000 genomes]
rs7956502	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961084	0.93[ASN][1000 genomes]
rs7961906	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964690	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964969	0.90[ASN][1000 genomes]
rs7965180	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966287	0.93[ASN][1000 genomes]
rs7966346	0.93[ASN][1000 genomes]
rs7966360	0.93[ASN][1000 genomes]
rs7966553	0.93[ASN][1000 genomes]
rs7966935	0.93[ASN][1000 genomes]
rs7979737	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs919840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919841	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919842	0.98[EUR][1000 genomes]
rs987868	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs987869	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv898872	chr12:21000586-21413632	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv1045460	chr12:21007732-21348247	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1048648	chr12:21007732-21410089	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv949142	chr12:21008498-21382619	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv948700	chr12:21008498-21422492	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv531958	chr12:21008499-21377322	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv1039633	chr12:21008519-21332904	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv1047113	chr12:21008519-21402544	Weak transcription Enhancers Strong 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
24	nsv541411	chr12:21008519-21402544	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv515735	chr12:21010048-21420712	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv933139	chr12:21011077-21404166	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv557710	chr12:21011480-21404832	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv1038517	chr12:21017375-21356781	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv541412	chr12:21017375-21356781	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv1052893	chr12:21017376-21356782	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	nsv541413	chr12:21017376-21356782	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv1051005	chr12:21017575-21356642	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv541414	chr12:21017575-21356642	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv933316	chr12:21017576-21404166	ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv916519	chr12:21017673-21356568	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	esv3417930	chr12:21018950-21179498	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv898877	chr12:21056715-21171896	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv1041345	chr12:21066155-21079897	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
39	nsv438195	chr12:21068337-21163599	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
40	esv3521480	chr12:21075030-21248548	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	esv3521481	chr12:21075030-21248548	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region 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	chr12:21058400-21080400	Weak transcription	A549	lung
2	chr12:21070600-21080600	Weak transcription	Liver	Liver

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