Variant report

Variant	rs504757
Chromosome Location	chr3:21974538-21974539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 270 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:260)

rs_ID	r²[population]
rs10433570	0.87[ASN][1000 genomes]
rs10440125	0.85[ASN][1000 genomes]
rs10510521	0.87[ASN][1000 genomes]
rs10865774	0.89[ASN][1000 genomes]
rs10865775	0.87[ASN][1000 genomes]
rs10865776	0.89[ASN][1000 genomes]
rs10865777	0.89[ASN][1000 genomes]
rs10865778	0.89[ASN][1000 genomes]
rs11129029	0.87[ASN][1000 genomes]
rs1120052	0.90[ASN][1000 genomes]
rs11706252	0.86[ASN][1000 genomes]
rs11714007	0.89[ASN][1000 genomes]
rs11717781	0.86[ASN][1000 genomes]
rs12330142	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12487611	0.89[ASN][1000 genomes]
rs12487653	0.89[ASN][1000 genomes]
rs12489286	0.88[ASN][1000 genomes]
rs12490987	0.87[ASN][1000 genomes]
rs12491046	0.89[ASN][1000 genomes]
rs12493892	0.89[ASN][1000 genomes]
rs12496539	0.87[ASN][1000 genomes]
rs12638980	0.85[ASN][1000 genomes]
rs13061226	0.86[ASN][1000 genomes]
rs13066816	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13072115	0.90[ASN][1000 genomes]
rs13076554	0.90[ASN][1000 genomes]
rs13077139	0.90[ASN][1000 genomes]
rs13078547	0.88[ASN][1000 genomes]
rs13091957	0.90[ASN][1000 genomes]
rs13091998	0.90[ASN][1000 genomes]
rs13092149	0.90[ASN][1000 genomes]
rs13092430	0.90[ASN][1000 genomes]
rs13095013	0.85[ASN][1000 genomes]
rs13096987	0.90[ASN][1000 genomes]
rs13097724	0.92[ASN][1000 genomes]
rs13097840	0.89[ASN][1000 genomes]
rs1351323	0.89[ASN][1000 genomes]
rs1383073	0.85[ASN][1000 genomes]
rs1391330	0.85[ASN][1000 genomes]
rs1391331	0.86[ASN][1000 genomes]
rs1479961	0.87[ASN][1000 genomes]
rs1479962	0.84[ASN][1000 genomes]
rs1479963	0.84[ASN][1000 genomes]
rs1479964	0.84[ASN][1000 genomes]
rs1479965	0.85[ASN][1000 genomes]
rs1479967	0.87[ASN][1000 genomes]
rs1479968	0.86[ASN][1000 genomes]
rs1479969	0.86[ASN][1000 genomes]
rs1479984	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1479986	0.89[ASN][1000 genomes]
rs1479987	0.89[ASN][1000 genomes]
rs1479988	0.89[ASN][1000 genomes]
rs1479989	0.89[ASN][1000 genomes]
rs1486332	0.86[ASN][1000 genomes]
rs1486333	0.85[ASN][1000 genomes]
rs1486372	0.86[ASN][1000 genomes]
rs1497925	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1497938	0.86[ASN][1000 genomes]
rs1497939	0.85[ASN][1000 genomes]
rs1553085	0.91[ASN][1000 genomes]
rs1564411	0.89[ASN][1000 genomes]
rs1626065	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1679239	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1684488	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1684495	0.86[ASN][1000 genomes]
rs1694015	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1694016	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1694042	0.86[ASN][1000 genomes]
rs17010120	0.87[ASN][1000 genomes]
rs17010126	0.87[ASN][1000 genomes]
rs17010229	0.89[ASN][1000 genomes]
rs17010304	0.88[ASN][1000 genomes]
rs17010418	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1842308	0.85[ASN][1000 genomes]
rs1842309	0.85[ASN][1000 genomes]
rs1843634	0.86[ASN][1000 genomes]
rs1846165	0.86[ASN][1000 genomes]
rs1846166	0.85[ASN][1000 genomes]
rs2061938	0.85[ASN][1000 genomes]
rs2061939	0.85[ASN][1000 genomes]
rs2061940	0.85[ASN][1000 genomes]
rs2291821	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2593314	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2593325	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259508	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259509	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259510	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259511	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259513	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259514	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259517	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs259537	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs259538	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs259564	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259566	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs259569	0.80[ASN][1000 genomes]
rs2620536	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34025961	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34164902	0.87[ASN][1000 genomes]
rs34598190	0.92[ASN][1000 genomes]
rs34708854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34718882	0.90[ASN][1000 genomes]
rs34756955	0.90[ASN][1000 genomes]
rs34815085	0.93[ASN][1000 genomes]
rs34904582	0.90[ASN][1000 genomes]
rs35338441	0.87[ASN][1000 genomes]
rs35478822	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35541916	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35726889	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35976399	0.90[ASN][1000 genomes]
rs35993195	0.93[ASN][1000 genomes]
rs36015330	0.90[ASN][1000 genomes]
rs36151232	0.91[EUR][1000 genomes]
rs3821386	0.83[ASN][1000 genomes]
rs3821388	0.83[ASN][1000 genomes]
rs3821389	0.83[ASN][1000 genomes]
rs3821390	0.83[ASN][1000 genomes]
rs3821392	0.85[ASN][1000 genomes]
rs3821393	0.85[ASN][1000 genomes]
rs3821394	0.85[ASN][1000 genomes]
rs4094000	0.89[ASN][1000 genomes]
rs4270525	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4271936	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4280654	0.90[EUR][1000 genomes]
rs4340722	0.82[EUR][1000 genomes]
rs4348015	0.86[ASN][1000 genomes]
rs4350938	0.87[ASN][1000 genomes]
rs4355303	0.88[ASN][1000 genomes]
rs4370048	0.89[ASN][1000 genomes]
rs4420894	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4440143	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4441677	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4525890	0.89[EUR][1000 genomes]
rs4610243	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4610244	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4627765	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4638988	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs472117	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs473395	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs474387	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs476982	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs478011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs478832	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs479923	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs485483	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs485569	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4858370	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500881	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs501056	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs502259	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs503119	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs504039	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs504917	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs505109	0.93[EUR][1000 genomes]
rs509513	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs521724	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs526390	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs526429	0.94[EUR][1000 genomes]
rs527517	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs536133	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs536196	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs536986	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537870	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs549089	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552049	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs559082	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs559861	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs559894	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs562629	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs563648	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs568153	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs581184	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs586425	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs598684	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs599540	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs610316	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs610320	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs611146	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs611545	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs613768	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs615095	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs618682	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs625615	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627323	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627773	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627776	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs628155	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs628226	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs629944	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs630299	0.84[ASN][1000 genomes]
rs630769	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs631246	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs632070	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs638809	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs638844	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641517	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs641518	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs641910	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs642045	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs645017	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6550633	0.89[ASN][1000 genomes]
rs662789	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66575668	0.90[ASN][1000 genomes]
rs67108462	0.87[ASN][1000 genomes]
rs671377	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67326109	0.87[ASN][1000 genomes]
rs675415	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs680685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7430341	0.89[ASN][1000 genomes]
rs7433115	0.85[ASN][1000 genomes]
rs7623923	0.90[ASN][1000 genomes]
rs7628630	0.88[ASN][1000 genomes]
rs7635217	0.90[ASN][1000 genomes]
rs7635489	0.87[ASN][1000 genomes]
rs7635497	0.87[ASN][1000 genomes]
rs7636487	0.87[ASN][1000 genomes]
rs7639658	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7645483	0.90[ASN][1000 genomes]
rs7646871	0.87[ASN][1000 genomes]
rs7646883	0.87[ASN][1000 genomes]
rs7646975	0.87[ASN][1000 genomes]
rs779029	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs779030	0.90[ASN][1000 genomes]
rs8179942	0.89[ASN][1000 genomes]
rs8179943	0.89[ASN][1000 genomes]
rs8180016	0.89[ASN][1000 genomes]
rs8180026	0.89[ASN][1000 genomes]
rs8180049	0.89[ASN][1000 genomes]
rs9310668	0.84[ASN][1000 genomes]
rs9809089	0.85[ASN][1000 genomes]
rs9809324	0.85[ASN][1000 genomes]
rs9810225	0.86[ASN][1000 genomes]
rs9811248	0.85[ASN][1000 genomes]
rs9811419	0.86[ASN][1000 genomes]
rs9814232	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9816540	0.86[ASN][1000 genomes]
rs9821571	0.85[ASN][1000 genomes]
rs9821707	0.85[ASN][1000 genomes]
rs9821722	0.85[ASN][1000 genomes]
rs9821912	0.85[ASN][1000 genomes]
rs9822011	0.85[ASN][1000 genomes]
rs9828376	0.85[ASN][1000 genomes]
rs9828689	0.80[ASN][1000 genomes]
rs9834671	0.84[ASN][1000 genomes]
rs9841763	0.85[ASN][1000 genomes]
rs9849994	0.87[ASN][1000 genomes]
rs9854012	0.85[ASN][1000 genomes]
rs9854895	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9859150	0.89[ASN][1000 genomes]
rs9859355	0.85[ASN][1000 genomes]
rs9870712	0.86[ASN][1000 genomes]
rs9873106	0.85[ASN][1000 genomes]
rs9873232	0.85[ASN][1000 genomes]
rs9879603	0.85[ASN][1000 genomes]
rs9879858	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1003085	chr3:21887971-22415107	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834633	chr3:21918264-22088338	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv876614	chr3:21919039-21994022	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv876616	chr3:21946847-22310622	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv876617	chr3:21955784-22310622	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1003934	chr3:21960795-21999895	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv999478	chr3:21971861-22012241	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21971800-21983800	Weak transcription	Fetal Heart	heart

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