Variant report

Variant	rs61930074
Chromosome Location	chr12:86218759-86218760
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 205 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:197)

rs_ID	r²[population]
rs10506918	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506921	0.82[ASN][1000 genomes]
rs10779216	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863083	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863085	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863086	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117042	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117050	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117051	1.00[ASN][1000 genomes]
rs11117052	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117053	1.00[ASN][1000 genomes]
rs11117057	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117064	0.93[ASN][1000 genomes]
rs11117065	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11503595	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608717	0.82[ASN][1000 genomes]
rs11608719	0.82[ASN][1000 genomes]
rs11610120	0.82[ASN][1000 genomes]
rs11610627	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11610763	0.82[ASN][1000 genomes]
rs11610789	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11611664	1.00[ASN][1000 genomes]
rs11611968	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11612432	0.82[ASN][1000 genomes]
rs11612928	0.82[ASN][1000 genomes]
rs11612938	0.82[ASN][1000 genomes]
rs11613070	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11613243	1.00[ASN][1000 genomes]
rs11614033	1.00[ASN][1000 genomes]
rs11614513	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11614830	1.00[ASN][1000 genomes]
rs11614924	1.00[ASN][1000 genomes]
rs11615953	0.89[ASN][1000 genomes]
rs11830132	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11830880	0.89[ASN][1000 genomes]
rs11831336	0.90[ASN][1000 genomes]
rs11831936	0.89[ASN][1000 genomes]
rs11832503	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832948	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11832992	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833148	0.96[ASN][1000 genomes]
rs11837152	1.00[ASN][1000 genomes]
rs11838160	0.93[ASN][1000 genomes]
rs12297441	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300728	1.00[ASN][1000 genomes]
rs12305828	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307686	0.93[ASN][1000 genomes]
rs12308839	1.00[ASN][1000 genomes]
rs12308898	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309296	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309878	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313658	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12313775	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314274	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314318	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829972	0.82[ASN][1000 genomes]
rs1349060	1.00[ASN][1000 genomes]
rs1349061	1.00[ASN][1000 genomes]
rs1349063	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1448096	1.00[ASN][1000 genomes]
rs1448097	1.00[ASN][1000 genomes]
rs1448098	1.00[ASN][1000 genomes]
rs1448099	0.96[ASN][1000 genomes]
rs1584368	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584369	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279205	0.82[ASN][1000 genomes]
rs17279916	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17280216	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17280483	1.00[ASN][1000 genomes]
rs17280643	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17280790	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17345028	0.82[ASN][1000 genomes]
rs17345522	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17345787	0.96[ASN][1000 genomes]
rs17345849	0.96[ASN][1000 genomes]
rs17345975	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17346231	1.00[ASN][1000 genomes]
rs1900700	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900701	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061686	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2197769	1.00[ASN][1000 genomes]
rs2234762	0.93[ASN][1000 genomes]
rs34555363	0.82[ASN][1000 genomes]
rs35034633	0.82[ASN][1000 genomes]
rs35648674	0.82[ASN][1000 genomes]
rs36046732	0.82[ASN][1000 genomes]
rs4274268	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4362214	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4436622	1.00[ASN][1000 genomes]
rs4488288	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4540904	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4897829	0.82[ASN][1000 genomes]
rs4897830	0.82[ASN][1000 genomes]
rs4897831	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4897834	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4919770	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4919771	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4919779	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082822	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56135828	0.82[ASN][1000 genomes]
rs56330110	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57278040	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57614821	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58553548	0.89[ASN][1000 genomes]
rs58742237	0.82[ASN][1000 genomes]
rs59445394	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59668915	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59858864	0.82[ASN][1000 genomes]
rs60539006	0.82[ASN][1000 genomes]
rs60947649	0.82[ASN][1000 genomes]
rs60986162	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928899	0.82[ASN][1000 genomes]
rs61928905	0.89[ASN][1000 genomes]
rs61928906	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61928907	0.89[ASN][1000 genomes]
rs61928910	0.90[ASN][1000 genomes]
rs61928911	0.90[ASN][1000 genomes]
rs61928912	0.90[ASN][1000 genomes]
rs61928914	0.90[ASN][1000 genomes]
rs61928916	0.90[ASN][1000 genomes]
rs61928919	0.96[ASN][1000 genomes]
rs61928920	0.85[ASN][1000 genomes]
rs61928955	0.96[ASN][1000 genomes]
rs61930029	0.82[ASN][1000 genomes]
rs61930036	0.82[ASN][1000 genomes]
rs61930064	1.00[ASN][1000 genomes]
rs61930066	1.00[ASN][1000 genomes]
rs61930067	1.00[ASN][1000 genomes]
rs61930068	1.00[ASN][1000 genomes]
rs61930076	1.00[ASN][1000 genomes]
rs61930078	1.00[ASN][1000 genomes]
rs61930132	1.00[ASN][1000 genomes]
rs61930137	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930139	1.00[ASN][1000 genomes]
rs61930140	1.00[ASN][1000 genomes]
rs61930624	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930625	0.82[ASN][1000 genomes]
rs61930626	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930629	0.82[ASN][1000 genomes]
rs61930631	0.82[ASN][1000 genomes]
rs61930632	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930633	0.82[ASN][1000 genomes]
rs61930637	0.82[ASN][1000 genomes]
rs61930639	0.82[ASN][1000 genomes]
rs61930640	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930641	0.82[ASN][1000 genomes]
rs61930644	0.82[ASN][1000 genomes]
rs61930862	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930864	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930865	1.00[ASN][1000 genomes]
rs61930873	1.00[ASN][1000 genomes]
rs6539923	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539924	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539925	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539926	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539927	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539928	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6539929	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539931	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539932	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539933	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66656505	0.82[ASN][1000 genomes]
rs67914794	0.82[ASN][1000 genomes]
rs7133591	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134732	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137596	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297996	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298536	0.82[ASN][1000 genomes]
rs7299285	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302741	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303330	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304873	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308229	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309500	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311532	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316772	1.00[ASN][1000 genomes]
rs73174576	0.82[ASN][1000 genomes]
rs73176549	0.82[ASN][1000 genomes]
rs73176583	1.00[ASN][1000 genomes]
rs73184562	0.89[ASN][1000 genomes]
rs7397266	0.90[ASN][1000 genomes]
rs7399276	0.82[ASN][1000 genomes]
rs7399277	0.82[ASN][1000 genomes]
rs7953318	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953353	1.00[ASN][1000 genomes]
rs7957170	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960130	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965388	0.93[ASN][1000 genomes]
rs7967183	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968248	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970081	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970732	1.00[ASN][1000 genomes]
rs7970842	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974167	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7979156	0.82[ASN][1000 genomes]
rs9788214	0.82[ASN][1000 genomes]
rs9788252	0.82[ASN][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	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
7	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86199800-86228200	Weak transcription	Left Ventricle	heart
2	chr12:86201800-86222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:86208800-86219600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:86216000-86219800	Enhancers	Stomach Mucosa	stomach
5	chr12:86216200-86218800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:86216200-86219000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:86216200-86219000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:86216200-86221200	Weak transcription	Fetal Kidney	kidney
9	chr12:86216800-86219000	Enhancers	NH-A	brain
10	chr12:86217000-86219800	Weak transcription	Aorta	Aorta
11	chr12:86217000-86220200	Enhancers	HMEC	breast
12	chr12:86217200-86218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:86217400-86218800	Weak transcription	Pancreas	Pancrea
14	chr12:86217400-86219800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:86217600-86218800	Enhancers	Hela-S3	cervix
16	chr12:86217800-86222800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:86218000-86219600	Weak transcription	A549	lung
18	chr12:86218200-86219400	Weak transcription	NHEK	skin
19	chr12:86218200-86219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:86218200-86222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:86218200-86222600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:86218200-86222600	Weak transcription	HSMM	muscle
23	chr12:86218200-86222800	Weak transcription	NHDF-Ad	bronchial
24	chr12:86218400-86222400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:86218600-86219200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr12:86218600-86219600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:86218600-86222400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:86218600-86222400	Weak transcription	Osteobl	bone

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