Variant report

Variant	rs12693434
Chromosome Location	chr2:186986310-186986311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:190)

rs_ID	r²[population]
rs10153530	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10165461	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10172564	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10173075	0.82[ASN][1000 genomes]
rs10174177	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10175720	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10175815	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10177182	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10181229	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10184559	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10185816	0.80[AFR][1000 genomes]
rs10186061	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10186776	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10186974	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10187040	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10189482	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10189763	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10189831	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10189845	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10189985	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10190713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193227	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10194241	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10196449	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10197403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10200077	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10200354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202553	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10205061	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10205148	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10205245	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10205253	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10497667	0.81[ASN][1000 genomes]
rs10931218	0.84[ASN][1000 genomes]
rs10931222	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs10931223	0.96[ASN][1000 genomes]
rs10931228	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12233005	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12233006	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12327903	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12327910	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12328007	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12328015	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12373738	0.94[ASN][1000 genomes]
rs12373744	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12614513	0.92[ASN][1000 genomes]
rs12614595	0.81[ASN][1000 genomes]
rs12615692	0.99[ASN][1000 genomes]
rs12615770	0.92[ASN][1000 genomes]
rs12615895	0.81[ASN][1000 genomes]
rs12616722	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12617754	0.99[ASN][1000 genomes]
rs12621910	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12622503	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12693431	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12693436	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693437	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988403	0.96[ASN][1000 genomes]
rs12990062	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12994334	0.92[ASN][1000 genomes]
rs12994860	0.92[ASN][1000 genomes]
rs12998383	0.92[ASN][1000 genomes]
rs12999474	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12999989	0.96[ASN][1000 genomes]
rs13003934	0.94[ASN][1000 genomes]
rs13005466	0.96[ASN][1000 genomes]
rs13014905	0.90[ASN][1000 genomes]
rs13019653	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13022305	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13028175	0.96[ASN][1000 genomes]
rs13383010	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13383401	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13388196	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13389991	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13394129	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13399174	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13401611	0.85[AFR][1000 genomes]
rs13403908	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13407103	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13416226	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13417379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419562	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13421172	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13422495	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13424906	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13425057	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13428953	0.85[AFR][1000 genomes]
rs13429238	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13429778	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1386516	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1386517	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1386523	0.92[ASN][1000 genomes]
rs16827461	0.92[ASN][1000 genomes]
rs16827480	0.92[ASN][1000 genomes]
rs16827536	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16827550	0.80[ASN][1000 genomes]
rs2029232	0.92[ASN][1000 genomes]
rs2029233	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2370660	0.89[ASN][1000 genomes]
rs2370670	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2370676	0.80[ASN][1000 genomes]
rs2370677	0.81[ASN][1000 genomes]
rs2370678	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2370679	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2370680	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2370681	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2887769	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2887816	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34064534	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34078354	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34113619	0.81[ASN][1000 genomes]
rs34133588	0.81[ASN][1000 genomes]
rs34176985	0.81[ASN][1000 genomes]
rs34612138	0.96[ASN][1000 genomes]
rs34627487	0.85[AFR][1000 genomes]
rs34749517	0.87[ASN][1000 genomes]
rs34750486	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34753519	0.87[ASN][1000 genomes]
rs34916921	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35141795	0.92[ASN][1000 genomes]
rs35156447	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35252434	0.81[ASN][1000 genomes]
rs35298515	0.81[ASN][1000 genomes]
rs35511463	0.87[ASN][1000 genomes]
rs35522677	0.81[ASN][1000 genomes]
rs35590244	0.81[ASN][1000 genomes]
rs35652084	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35709645	0.85[ASN][1000 genomes]
rs35811272	0.92[ASN][1000 genomes]
rs35860748	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35942256	0.81[ASN][1000 genomes]
rs4130833	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4130834	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4264536	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284795	0.81[ASN][1000 genomes]
rs4338930	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4381751	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4386289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4417686	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4420679	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4442964	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4471852	0.92[ASN][1000 genomes]
rs4493221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494701	0.92[ASN][1000 genomes]
rs4552153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591311	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591314	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4600605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4614896	0.81[ASN][1000 genomes]
rs55690692	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56309229	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57423042	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58489224	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59252797	0.96[ASN][1000 genomes]
rs60344273	0.92[ASN][1000 genomes]
rs60534107	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60746023	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61131445	0.81[ASN][1000 genomes]
rs61558722	0.92[ASN][1000 genomes]
rs61573398	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62199045	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66610853	0.96[ASN][1000 genomes]
rs66646464	0.99[ASN][1000 genomes]
rs6713702	0.97[ASN][1000 genomes]
rs6715226	0.84[JPT][hapmap]
rs6725624	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750636	0.96[ASN][1000 genomes]
rs67872787	0.96[ASN][1000 genomes]
rs72893941	0.92[ASN][1000 genomes]
rs72893980	0.92[ASN][1000 genomes]
rs72893984	0.92[ASN][1000 genomes]
rs72899807	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899827	0.97[ASN][1000 genomes]
rs72901780	0.96[ASN][1000 genomes]
rs72903616	0.92[ASN][1000 genomes]
rs72903625	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72903626	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72903630	0.92[ASN][1000 genomes]
rs72903638	0.91[ASN][1000 genomes]
rs72905629	0.80[ASN][1000 genomes]
rs7559953	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569990	0.85[AFR][1000 genomes]
rs7582258	0.87[ASN][1000 genomes]
rs8179713	0.81[ASN][1000 genomes]
rs875162	0.87[ASN][1000 genomes]
rs9288123	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9288124	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9630989	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs991084	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1002243	chr2:186692815-187150225	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv536077	chr2:186692815-187150225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv875547	chr2:186798249-187014815	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv875548	chr2:186798249-187164657	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv584030	chr2:186915437-187001076	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3329676	chr2:186972495-186994906	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1003369	chr2:186980675-187133740	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186978200-186989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:186978400-186990800	Weak transcription	Psoas Muscle	Psoas
3	chr2:186980000-186991800	Weak transcription	Gastric	stomach
4	chr2:186983800-186993600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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