Variant report

Variant	rs11534930
Chromosome Location	chr12:60186876-60186877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:175)

rs_ID	r²[population]
rs10877341	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173153	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173157	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12578499	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12579986	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12718000	0.95[EUR][1000 genomes]
rs12811123	0.95[EUR][1000 genomes]
rs12811364	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12812257	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12816372	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12817723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12819402	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12821998	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12823549	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12823946	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12824130	0.94[EUR][1000 genomes]
rs12824156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12824305	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12824312	0.97[EUR][1000 genomes]
rs12824395	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12824600	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12824910	0.95[EUR][1000 genomes]
rs12826493	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12826693	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12826770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12826963	0.94[EUR][1000 genomes]
rs12827043	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12827221	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12827292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12827420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12828834	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12830142	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12831305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1613477	0.94[EUR][1000 genomes]
rs1613544	0.94[EUR][1000 genomes]
rs1617982	0.94[EUR][1000 genomes]
rs1619563	0.94[EUR][1000 genomes]
rs1693597	0.94[EUR][1000 genomes]
rs1693598	0.94[EUR][1000 genomes]
rs1693600	0.94[EUR][1000 genomes]
rs1693601	0.94[EUR][1000 genomes]
rs1693602	0.94[EUR][1000 genomes]
rs1693603	0.94[EUR][1000 genomes]
rs1693604	0.94[EUR][1000 genomes]
rs1693605	0.94[EUR][1000 genomes]
rs1693607	0.94[EUR][1000 genomes]
rs17120243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17122972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122980	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17122985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122992	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17649791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1795883	0.94[EUR][1000 genomes]
rs1795889	0.94[EUR][1000 genomes]
rs1795890	0.94[EUR][1000 genomes]
rs1795893	0.94[EUR][1000 genomes]
rs1795895	0.94[EUR][1000 genomes]
rs1795898	0.94[EUR][1000 genomes]
rs1882504	1.00[EUR][1000 genomes]
rs1882505	0.94[EUR][1000 genomes]
rs2178671	0.94[EUR][1000 genomes]
rs2178672	0.94[EUR][1000 genomes]
rs2222878	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2222879	1.00[EUR][1000 genomes]
rs2244244	0.94[EUR][1000 genomes]
rs2706280	0.97[EUR][1000 genomes]
rs2706282	0.92[EUR][1000 genomes]
rs2706283	0.92[EUR][1000 genomes]
rs2706284	0.97[EUR][1000 genomes]
rs2706286	0.97[EUR][1000 genomes]
rs2706287	0.97[EUR][1000 genomes]
rs2706289	0.97[EUR][1000 genomes]
rs2706290	0.97[EUR][1000 genomes]
rs2706291	0.97[EUR][1000 genomes]
rs2706292	0.94[EUR][1000 genomes]
rs2706293	0.97[EUR][1000 genomes]
rs2706294	1.00[EUR][1000 genomes]
rs2706300	0.94[EUR][1000 genomes]
rs2706302	0.94[EUR][1000 genomes]
rs2706305	0.94[EUR][1000 genomes]
rs2706307	0.94[EUR][1000 genomes]
rs2706308	0.94[EUR][1000 genomes]
rs2706310	0.92[EUR][1000 genomes]
rs2706311	0.92[EUR][1000 genomes]
rs2706312	0.94[EUR][1000 genomes]
rs2706317	0.94[EUR][1000 genomes]
rs2706318	0.94[EUR][1000 genomes]
rs2706320	0.94[EUR][1000 genomes]
rs2706321	0.92[EUR][1000 genomes]
rs2706322	0.94[EUR][1000 genomes]
rs2711651	0.97[EUR][1000 genomes]
rs2711652	0.97[EUR][1000 genomes]
rs2711654	0.97[EUR][1000 genomes]
rs2711658	0.97[EUR][1000 genomes]
rs2711660	0.97[EUR][1000 genomes]
rs2711662	0.97[EUR][1000 genomes]
rs2711663	0.94[EUR][1000 genomes]
rs2711664	0.94[EUR][1000 genomes]
rs2711667	0.94[EUR][1000 genomes]
rs2711669	0.94[EUR][1000 genomes]
rs2711673	0.92[EUR][1000 genomes]
rs2711674	0.92[EUR][1000 genomes]
rs2711675	0.92[EUR][1000 genomes]
rs2711676	0.92[EUR][1000 genomes]
rs2711678	0.94[EUR][1000 genomes]
rs2711679	0.94[EUR][1000 genomes]
rs2711680	0.94[EUR][1000 genomes]
rs2711683	0.89[EUR][1000 genomes]
rs2711686	0.94[EUR][1000 genomes]
rs2711687	0.97[EUR][1000 genomes]
rs2711688	0.92[EUR][1000 genomes]
rs2711689	0.97[EUR][1000 genomes]
rs2711690	0.97[EUR][1000 genomes]
rs2711692	0.97[EUR][1000 genomes]
rs2711693	0.97[EUR][1000 genomes]
rs2952446	0.97[EUR][1000 genomes]
rs34038000	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34040471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34089003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34149184	0.95[EUR][1000 genomes]
rs34153651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34183506	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34272110	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34347654	0.84[EUR][1000 genomes]
rs34659184	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34790713	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34860779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34861412	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35096295	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35140316	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35203350	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35258374	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35397369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35399130	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35506739	0.94[EUR][1000 genomes]
rs35613243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35661132	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35755432	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35889150	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36072512	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36077154	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36159000	0.97[EUR][1000 genomes]
rs3763979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4131430	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4432061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5012615	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61933773	0.94[EUR][1000 genomes]
rs61933775	0.94[EUR][1000 genomes]
rs61933776	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61933793	0.89[EUR][1000 genomes]
rs61933804	0.97[EUR][1000 genomes]
rs61933838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61933843	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61933848	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61935606	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61935608	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61935610	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62625022	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581273	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7132933	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7137002	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71463241	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298553	0.94[EUR][1000 genomes]
rs7303705	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7484893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7956657	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7967144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971641	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7972637	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976838	0.91[EUR][1000 genomes]
rs9325168	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv899135	chr12:60156046-60228610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559101	chr12:60164408-60202218	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv559102	chr12:60164408-60221898	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60169200-60187000	Weak transcription	Primary B cells from cord blood	blood
2	chr12:60169400-60187600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:60169400-60189200	Weak transcription	Dnd41	blood
4	chr12:60173400-60189400	Weak transcription	Left Ventricle	heart
5	chr12:60186000-60187200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:60186000-60187200	ZNF genes & repeats	Aorta	Aorta
7	chr12:60186000-60187200	ZNF genes & repeats	Esophagus	oesophagus
8	chr12:60186000-60187200	ZNF genes & repeats	Pancreas	Pancrea
9	chr12:60186200-60187400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr12:60186400-60187000	ZNF genes & repeats	Fetal Stomach	stomach
11	chr12:60186400-60189400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:60186600-60187000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:60186600-60187200	Weak transcription	Gastric	stomach
14	chr12:60186600-60189400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:60186800-60197600	Weak transcription	Stomach Smooth Muscle	stomach

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