Variant report

Variant	rs61928916
Chromosome Location	chr12:86197510-86197511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 290 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:284)

rs_ID	r²[population]
rs10506918	0.90[ASN][1000 genomes]
rs10506920	0.80[ASN][1000 genomes]
rs10506921	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10506922	0.80[ASN][1000 genomes]
rs10506923	0.80[ASN][1000 genomes]
rs10735486	0.80[ASN][1000 genomes]
rs10746353	0.80[ASN][1000 genomes]
rs10779201	0.80[ASN][1000 genomes]
rs10779202	0.80[ASN][1000 genomes]
rs10779203	0.80[ASN][1000 genomes]
rs10779204	0.80[ASN][1000 genomes]
rs10779206	0.80[ASN][1000 genomes]
rs10779207	0.80[ASN][1000 genomes]
rs10779216	0.90[ASN][1000 genomes]
rs10863069	0.80[ASN][1000 genomes]
rs10863070	0.80[ASN][1000 genomes]
rs10863071	0.80[ASN][1000 genomes]
rs10863073	0.80[ASN][1000 genomes]
rs10863075	0.80[ASN][1000 genomes]
rs10863076	0.80[ASN][1000 genomes]
rs10863077	0.80[ASN][1000 genomes]
rs10863078	0.80[ASN][1000 genomes]
rs10863079	0.80[ASN][1000 genomes]
rs10863080	0.80[ASN][1000 genomes]
rs10863083	0.90[ASN][1000 genomes]
rs10863086	0.90[ASN][1000 genomes]
rs11117016	0.80[ASN][1000 genomes]
rs11117017	0.80[ASN][1000 genomes]
rs11117020	0.80[ASN][1000 genomes]
rs11117021	0.80[ASN][1000 genomes]
rs11117023	0.80[ASN][1000 genomes]
rs11117042	0.90[ASN][1000 genomes]
rs11117050	0.90[ASN][1000 genomes]
rs11117051	0.90[ASN][1000 genomes]
rs11117052	0.90[ASN][1000 genomes]
rs11117053	0.90[ASN][1000 genomes]
rs11117057	0.90[ASN][1000 genomes]
rs11117064	0.83[ASN][1000 genomes]
rs11117065	0.83[ASN][1000 genomes]
rs11503595	0.90[ASN][1000 genomes]
rs11608717	0.87[ASN][1000 genomes]
rs11608719	0.87[ASN][1000 genomes]
rs11609351	0.80[ASN][1000 genomes]
rs11610120	0.87[ASN][1000 genomes]
rs11610371	0.80[ASN][1000 genomes]
rs11610627	0.87[ASN][1000 genomes]
rs11610763	0.87[ASN][1000 genomes]
rs11610789	0.87[ASN][1000 genomes]
rs11610846	0.80[ASN][1000 genomes]
rs11611664	0.90[ASN][1000 genomes]
rs11611968	0.87[ASN][1000 genomes]
rs11612432	0.87[ASN][1000 genomes]
rs11612928	0.87[ASN][1000 genomes]
rs11612938	0.87[ASN][1000 genomes]
rs11613070	0.87[ASN][1000 genomes]
rs11613243	0.90[ASN][1000 genomes]
rs11614033	0.90[ASN][1000 genomes]
rs11614513	0.87[ASN][1000 genomes]
rs11614830	0.90[ASN][1000 genomes]
rs11614924	0.90[ASN][1000 genomes]
rs11615116	0.80[ASN][1000 genomes]
rs11830880	0.93[ASN][1000 genomes]
rs11831336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831936	0.93[ASN][1000 genomes]
rs11832503	0.90[ASN][1000 genomes]
rs11832948	0.83[ASN][1000 genomes]
rs11832992	0.90[ASN][1000 genomes]
rs11833148	0.93[ASN][1000 genomes]
rs11837152	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11838160	0.83[ASN][1000 genomes]
rs12297441	0.90[ASN][1000 genomes]
rs12300728	0.90[ASN][1000 genomes]
rs12305828	0.90[ASN][1000 genomes]
rs12307686	0.83[ASN][1000 genomes]
rs12308839	0.90[ASN][1000 genomes]
rs12308898	0.90[ASN][1000 genomes]
rs12309130	0.80[ASN][1000 genomes]
rs12309296	0.90[ASN][1000 genomes]
rs12309878	0.90[ASN][1000 genomes]
rs12313775	0.90[ASN][1000 genomes]
rs12314274	0.90[ASN][1000 genomes]
rs12314318	0.90[ASN][1000 genomes]
rs12426417	0.80[ASN][1000 genomes]
rs12829972	0.87[ASN][1000 genomes]
rs1349060	0.90[ASN][1000 genomes]
rs1349061	0.90[ASN][1000 genomes]
rs1349063	0.83[ASN][1000 genomes]
rs1448096	0.90[ASN][1000 genomes]
rs1448097	0.90[ASN][1000 genomes]
rs1448098	0.90[ASN][1000 genomes]
rs1448099	0.87[ASN][1000 genomes]
rs1584368	0.90[ASN][1000 genomes]
rs1584369	0.90[ASN][1000 genomes]
rs17279133	0.80[ASN][1000 genomes]
rs17279205	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17279240	0.80[ASN][1000 genomes]
rs17279261	0.80[ASN][1000 genomes]
rs17279289	0.80[ASN][1000 genomes]
rs17279338	0.80[ASN][1000 genomes]
rs17279464	0.80[ASN][1000 genomes]
rs17279916	0.87[ASN][1000 genomes]
rs17280216	0.93[ASN][1000 genomes]
rs17280483	0.90[ASN][1000 genomes]
rs17280643	0.90[ASN][1000 genomes]
rs17280755	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17280790	0.90[ASN][1000 genomes]
rs17344633	0.80[ASN][1000 genomes]
rs17344834	0.80[ASN][1000 genomes]
rs17345028	0.86[ASN][1000 genomes]
rs17345272	0.80[ASN][1000 genomes]
rs17345299	0.80[ASN][1000 genomes]
rs17345522	0.87[ASN][1000 genomes]
rs17345787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17345849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17345975	0.90[ASN][1000 genomes]
rs17346231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1900700	0.90[ASN][1000 genomes]
rs1900701	0.90[ASN][1000 genomes]
rs2061686	0.87[ASN][1000 genomes]
rs2197769	0.90[ASN][1000 genomes]
rs2199519	0.80[ASN][1000 genomes]
rs2199520	0.80[ASN][1000 genomes]
rs2219715	0.80[ASN][1000 genomes]
rs2234762	0.83[ASN][1000 genomes]
rs2405614	0.80[ASN][1000 genomes]
rs2405615	0.80[ASN][1000 genomes]
rs2405621	0.80[ASN][1000 genomes]
rs34555363	0.87[ASN][1000 genomes]
rs34656916	0.80[ASN][1000 genomes]
rs34885805	0.80[ASN][1000 genomes]
rs35034633	0.87[ASN][1000 genomes]
rs35648674	0.87[ASN][1000 genomes]
rs36046732	0.87[ASN][1000 genomes]
rs4131243	0.83[ASN][1000 genomes]
rs4274268	0.90[ASN][1000 genomes]
rs4278581	0.80[ASN][1000 genomes]
rs4278582	0.80[ASN][1000 genomes]
rs4341613	0.80[ASN][1000 genomes]
rs4362214	0.90[ASN][1000 genomes]
rs4393398	0.80[ASN][1000 genomes]
rs4436622	0.90[ASN][1000 genomes]
rs4462416	0.80[ASN][1000 genomes]
rs4488288	0.90[ASN][1000 genomes]
rs4540904	0.87[ASN][1000 genomes]
rs4559760	0.80[ASN][1000 genomes]
rs4897818	0.80[ASN][1000 genomes]
rs4897823	0.80[ASN][1000 genomes]
rs4897827	0.80[ASN][1000 genomes]
rs4897828	0.80[ASN][1000 genomes]
rs4897829	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4897830	0.87[ASN][1000 genomes]
rs4897831	0.87[ASN][1000 genomes]
rs4897834	0.87[ASN][1000 genomes]
rs4897844	0.80[ASN][1000 genomes]
rs4919770	0.90[ASN][1000 genomes]
rs4919771	0.90[ASN][1000 genomes]
rs4919779	0.90[ASN][1000 genomes]
rs56082822	0.90[ASN][1000 genomes]
rs56135828	0.87[ASN][1000 genomes]
rs56291271	0.80[ASN][1000 genomes]
rs56330110	0.87[ASN][1000 genomes]
rs57278040	0.90[ASN][1000 genomes]
rs57614821	0.87[ASN][1000 genomes]
rs58742237	0.87[ASN][1000 genomes]
rs59445394	0.90[ASN][1000 genomes]
rs59668915	1.00[ASN][1000 genomes]
rs59858864	0.87[ASN][1000 genomes]
rs60000164	0.83[ASN][1000 genomes]
rs60539006	0.87[ASN][1000 genomes]
rs60947649	0.87[ASN][1000 genomes]
rs60986162	0.90[ASN][1000 genomes]
rs61928899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61928905	0.93[ASN][1000 genomes]
rs61928906	0.93[ASN][1000 genomes]
rs61928907	0.93[ASN][1000 genomes]
rs61928909	0.86[ASN][1000 genomes]
rs61928910	1.00[ASN][1000 genomes]
rs61928911	1.00[ASN][1000 genomes]
rs61928912	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928914	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928919	0.93[ASN][1000 genomes]
rs61928920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61928955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61930029	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930035	0.80[ASN][1000 genomes]
rs61930036	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61930037	0.80[ASN][1000 genomes]
rs61930064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61930066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61930067	0.90[ASN][1000 genomes]
rs61930068	0.90[ASN][1000 genomes]
rs61930074	0.90[ASN][1000 genomes]
rs61930076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61930078	0.90[ASN][1000 genomes]
rs61930132	0.90[ASN][1000 genomes]
rs61930137	0.90[ASN][1000 genomes]
rs61930139	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61930140	0.90[ASN][1000 genomes]
rs61930575	0.80[ASN][1000 genomes]
rs61930579	0.80[ASN][1000 genomes]
rs61930580	0.80[ASN][1000 genomes]
rs61930581	0.80[ASN][1000 genomes]
rs61930582	0.80[ASN][1000 genomes]
rs61930585	0.80[ASN][1000 genomes]
rs61930586	0.80[ASN][1000 genomes]
rs61930587	0.80[ASN][1000 genomes]
rs61930588	0.80[ASN][1000 genomes]
rs61930589	0.80[ASN][1000 genomes]
rs61930590	0.80[ASN][1000 genomes]
rs61930591	0.80[ASN][1000 genomes]
rs61930624	0.87[ASN][1000 genomes]
rs61930625	0.87[ASN][1000 genomes]
rs61930626	0.87[ASN][1000 genomes]
rs61930629	0.87[ASN][1000 genomes]
rs61930631	0.87[ASN][1000 genomes]
rs61930632	0.87[ASN][1000 genomes]
rs61930633	0.87[ASN][1000 genomes]
rs61930637	0.87[ASN][1000 genomes]
rs61930639	0.87[ASN][1000 genomes]
rs61930640	0.87[ASN][1000 genomes]
rs61930641	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61930644	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61930862	0.90[ASN][1000 genomes]
rs61930864	0.90[ASN][1000 genomes]
rs61930865	0.90[ASN][1000 genomes]
rs61930873	0.90[ASN][1000 genomes]
rs6539921	0.80[ASN][1000 genomes]
rs6539923	0.90[ASN][1000 genomes]
rs6539924	0.90[ASN][1000 genomes]
rs6539925	0.90[ASN][1000 genomes]
rs6539926	0.90[ASN][1000 genomes]
rs6539927	0.90[ASN][1000 genomes]
rs6539928	0.87[ASN][1000 genomes]
rs6539929	0.90[ASN][1000 genomes]
rs6539931	0.90[ASN][1000 genomes]
rs6539932	0.90[ASN][1000 genomes]
rs6539933	0.90[ASN][1000 genomes]
rs66656505	0.87[ASN][1000 genomes]
rs67914794	0.87[ASN][1000 genomes]
rs7133591	0.90[ASN][1000 genomes]
rs7134732	0.90[ASN][1000 genomes]
rs7136905	0.80[ASN][1000 genomes]
rs7137041	0.80[ASN][1000 genomes]
rs7137596	0.90[ASN][1000 genomes]
rs7297996	0.87[ASN][1000 genomes]
rs7299285	0.90[ASN][1000 genomes]
rs7302741	0.90[ASN][1000 genomes]
rs7303330	0.90[ASN][1000 genomes]
rs7304873	0.90[ASN][1000 genomes]
rs7307617	0.80[ASN][1000 genomes]
rs7307626	0.80[ASN][1000 genomes]
rs7308229	0.90[ASN][1000 genomes]
rs7309500	0.90[ASN][1000 genomes]
rs7311532	0.90[ASN][1000 genomes]
rs7314668	0.80[ASN][1000 genomes]
rs7316772	0.90[ASN][1000 genomes]
rs73174576	0.87[ASN][1000 genomes]
rs73176549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73176583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7397266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7399276	0.87[ASN][1000 genomes]
rs7399277	0.87[ASN][1000 genomes]
rs7953318	0.90[ASN][1000 genomes]
rs7953353	0.90[ASN][1000 genomes]
rs7954472	0.81[ASN][1000 genomes]
rs7957170	0.90[ASN][1000 genomes]
rs7959372	0.80[ASN][1000 genomes]
rs7960130	0.90[ASN][1000 genomes]
rs7965388	0.83[ASN][1000 genomes]
rs7967183	0.90[ASN][1000 genomes]
rs7968059	0.80[ASN][1000 genomes]
rs7968248	0.90[ASN][1000 genomes]
rs7970081	0.90[ASN][1000 genomes]
rs7970732	0.90[ASN][1000 genomes]
rs7970842	0.90[ASN][1000 genomes]
rs7974167	0.90[ASN][1000 genomes]
rs7976647	0.80[ASN][1000 genomes]
rs7979156	0.87[ASN][1000 genomes]
rs974816	0.80[ASN][1000 genomes]
rs974817	0.80[ASN][1000 genomes]
rs974818	0.80[ASN][1000 genomes]
rs9788152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9788214	0.87[ASN][1000 genomes]
rs9788252	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86191400-86207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:86194200-86214000	Weak transcription	HMEC	breast
3	chr12:86196000-86197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:86196200-86197600	Enhancers	Hela-S3	cervix
5	chr12:86196400-86198800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:86196600-86198400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:86196600-86199200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:86196800-86197600	Enhancers	HUVEC	blood vessel
9	chr12:86196800-86198400	Weak transcription	Adipose Nuclei	Adipose
10	chr12:86196800-86198800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:86197000-86199200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:86197000-86199800	Enhancers	NH-A	brain
13	chr12:86197000-86207800	Weak transcription	Fetal Heart	heart
14	chr12:86197200-86197800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:86197200-86197800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:86197200-86198400	Enhancers	NHDF-Ad	bronchial
17	chr12:86197200-86198400	Enhancers	Osteobl	bone
18	chr12:86197200-86199400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:86197400-86198400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:86197400-86198600	Enhancers	NHEK	skin
21	chr12:86197400-86199000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:86197400-86207800	Weak transcription	Right Ventricle	heart

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