Variant report

Variant	rs2711689
Chromosome Location	chr12:60143708-60143709
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs10877341	0.91[EUR][1000 genomes]
rs11173153	0.92[EUR][1000 genomes]
rs11173157	0.92[EUR][1000 genomes]
rs11173167	0.95[EUR][1000 genomes]
rs11173168	0.95[EUR][1000 genomes]
rs11534930	0.97[EUR][1000 genomes]
rs12578499	0.89[EUR][1000 genomes]
rs12579986	0.92[EUR][1000 genomes]
rs12718000	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811123	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12811364	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812257	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816372	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817723	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819402	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821998	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823549	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823946	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824130	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824156	0.97[EUR][1000 genomes]
rs12824305	1.00[EUR][1000 genomes]
rs12824312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824395	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12824600	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824910	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825732	0.83[ASN][1000 genomes]
rs12826493	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826693	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826770	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827043	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12827221	0.94[EUR][1000 genomes]
rs12827292	0.97[EUR][1000 genomes]
rs12827420	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12828834	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830142	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831305	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1613477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1613544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1617982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619563	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120243	0.95[EUR][1000 genomes]
rs17122972	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122978	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122980	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122985	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122992	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649791	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795890	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882504	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222878	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222879	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706282	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706283	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2706287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706293	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706294	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706321	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706322	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2711674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711679	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711683	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711686	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2711688	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2711693	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038000	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34040471	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34089003	0.97[EUR][1000 genomes]
rs34149184	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34153651	0.97[EUR][1000 genomes]
rs34183506	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34272110	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347654	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34659184	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34790713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34860779	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861412	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35096295	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140316	0.91[EUR][1000 genomes]
rs35203350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35258374	0.86[EUR][1000 genomes]
rs35397369	0.97[EUR][1000 genomes]
rs35399130	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35506739	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35613243	0.95[EUR][1000 genomes]
rs35661132	0.88[EUR][1000 genomes]
rs35755432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35889150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36072512	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36077154	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36159000	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763979	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131430	0.92[EUR][1000 genomes]
rs4432061	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5012615	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59085053	0.92[ASN][1000 genomes]
rs61933773	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933776	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933793	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61933804	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933838	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933843	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933848	0.97[EUR][1000 genomes]
rs61935606	0.92[EUR][1000 genomes]
rs61935608	0.91[EUR][1000 genomes]
rs61935610	0.89[EUR][1000 genomes]
rs62625022	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581273	0.92[EUR][1000 genomes]
rs7132933	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137002	0.92[EUR][1000 genomes]
rs71463241	0.90[EUR][1000 genomes]
rs7298553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303705	0.88[EUR][1000 genomes]
rs7484893	0.95[EUR][1000 genomes]
rs7956657	0.88[EUR][1000 genomes]
rs7967144	0.97[EUR][1000 genomes]
rs7971641	0.88[EUR][1000 genomes]
rs7971727	0.97[EUR][1000 genomes]
rs7972637	0.92[EUR][1000 genomes]
rs7976838	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9325168	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:60124000-60168800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
5	chr12:60132400-60165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:60137400-60161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:60138000-60147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:60138600-60168400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:60138800-60173200	Weak transcription	Aorta	Aorta
10	chr12:60139000-60144600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:60141800-60161000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:60142800-60143800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr12:60143400-60157000	Weak transcription	Primary T cells from cord blood	blood

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