Variant report

Variant	rs1448096
Chromosome Location	chr12:86224623-86224624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 210 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:202)

rs_ID	r²[population]
rs10506918	1.00[ASN][1000 genomes]
rs10506921	0.82[ASN][1000 genomes]
rs10779216	1.00[ASN][1000 genomes]
rs10863083	1.00[ASN][1000 genomes]
rs10863085	0.89[ASN][1000 genomes]
rs10863086	1.00[ASN][1000 genomes]
rs11117042	1.00[ASN][1000 genomes]
rs11117050	1.00[ASN][1000 genomes]
rs11117051	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117052	1.00[ASN][1000 genomes]
rs11117053	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117057	1.00[ASN][1000 genomes]
rs11117064	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11117065	0.93[ASN][1000 genomes]
rs11503595	1.00[ASN][1000 genomes]
rs11608717	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11608719	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11610120	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11610627	0.82[ASN][1000 genomes]
rs11610763	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11610789	0.82[ASN][1000 genomes]
rs11611664	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611968	0.82[ASN][1000 genomes]
rs11612432	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11612928	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11612938	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11613070	0.82[ASN][1000 genomes]
rs11613243	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614033	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614513	0.82[ASN][1000 genomes]
rs11614830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614924	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615056	0.91[YRI][hapmap]
rs11615953	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11830880	0.89[ASN][1000 genomes]
rs11831336	0.90[ASN][1000 genomes]
rs11831936	0.89[ASN][1000 genomes]
rs11832503	1.00[ASN][1000 genomes]
rs11832948	0.93[ASN][1000 genomes]
rs11832992	1.00[ASN][1000 genomes]
rs11833148	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11837152	1.00[ASN][1000 genomes]
rs11838160	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12297441	1.00[ASN][1000 genomes]
rs12300728	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305828	1.00[ASN][1000 genomes]
rs12307686	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12308839	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308898	1.00[ASN][1000 genomes]
rs12309296	1.00[ASN][1000 genomes]
rs12309878	1.00[ASN][1000 genomes]
rs12313658	0.89[ASN][1000 genomes]
rs12313775	1.00[ASN][1000 genomes]
rs12314274	1.00[ASN][1000 genomes]
rs12314318	1.00[ASN][1000 genomes]
rs12829972	0.82[ASN][1000 genomes]
rs1349060	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349061	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349063	0.93[ASN][1000 genomes]
rs1448097	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448098	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448099	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1584368	1.00[ASN][1000 genomes]
rs1584369	1.00[ASN][1000 genomes]
rs17279205	0.82[ASN][1000 genomes]
rs17279916	0.82[ASN][1000 genomes]
rs17280216	0.96[ASN][1000 genomes]
rs17280483	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17280643	1.00[ASN][1000 genomes]
rs17280790	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17345028	0.82[ASN][1000 genomes]
rs17345522	0.82[ASN][1000 genomes]
rs17345787	0.96[ASN][1000 genomes]
rs17345849	0.96[ASN][1000 genomes]
rs17345975	1.00[ASN][1000 genomes]
rs17346057	0.86[YRI][hapmap]
rs17346099	0.91[YRI][hapmap]
rs17346231	1.00[ASN][1000 genomes]
rs1900700	1.00[ASN][1000 genomes]
rs1900701	1.00[ASN][1000 genomes]
rs2061686	0.82[ASN][1000 genomes]
rs2197769	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234762	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34555363	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35034633	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35648674	0.82[ASN][1000 genomes]
rs36046732	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4274268	1.00[ASN][1000 genomes]
rs4362214	1.00[ASN][1000 genomes]
rs4436622	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4488288	1.00[ASN][1000 genomes]
rs4540904	0.96[ASN][1000 genomes]
rs4897829	0.82[ASN][1000 genomes]
rs4897830	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4897831	0.82[ASN][1000 genomes]
rs4897834	0.82[ASN][1000 genomes]
rs4919770	1.00[ASN][1000 genomes]
rs4919771	1.00[ASN][1000 genomes]
rs4919779	1.00[ASN][1000 genomes]
rs56082822	1.00[ASN][1000 genomes]
rs56135828	0.82[ASN][1000 genomes]
rs56330110	0.82[ASN][1000 genomes]
rs57278040	1.00[ASN][1000 genomes]
rs57614821	0.96[ASN][1000 genomes]
rs58553548	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58742237	0.82[ASN][1000 genomes]
rs59445394	1.00[ASN][1000 genomes]
rs59668915	0.90[ASN][1000 genomes]
rs59858864	0.82[ASN][1000 genomes]
rs60000164	0.83[EUR][1000 genomes]
rs60539006	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60947649	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60986162	1.00[ASN][1000 genomes]
rs61928899	0.82[ASN][1000 genomes]
rs61928905	0.89[ASN][1000 genomes]
rs61928906	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	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];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]
rs61930074	1.00[ASN][1000 genomes]
rs61930076	1.00[ASN][1000 genomes]
rs61930078	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930132	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930137	1.00[ASN][1000 genomes]
rs61930139	1.00[ASN][1000 genomes]
rs61930140	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930624	0.82[ASN][1000 genomes]
rs61930625	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930626	0.82[ASN][1000 genomes]
rs61930629	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930631	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930632	0.82[ASN][1000 genomes]
rs61930633	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930637	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930639	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61930640	0.82[ASN][1000 genomes]
rs61930641	0.82[ASN][1000 genomes]
rs61930644	0.82[ASN][1000 genomes]
rs61930862	1.00[ASN][1000 genomes]
rs61930864	1.00[ASN][1000 genomes]
rs61930865	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930873	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539923	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6539924	1.00[ASN][1000 genomes]
rs6539925	1.00[ASN][1000 genomes]
rs6539926	1.00[ASN][1000 genomes]
rs6539927	1.00[ASN][1000 genomes]
rs6539928	0.96[ASN][1000 genomes]
rs6539929	1.00[ASN][1000 genomes]
rs6539931	1.00[ASN][1000 genomes]
rs6539932	1.00[ASN][1000 genomes]
rs6539933	1.00[ASN][1000 genomes]
rs66656505	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67914794	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133591	1.00[ASN][1000 genomes]
rs7134732	1.00[ASN][1000 genomes]
rs7137596	1.00[ASN][1000 genomes]
rs7297996	0.96[ASN][1000 genomes]
rs7298536	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7299285	1.00[ASN][1000 genomes]
rs7302741	1.00[ASN][1000 genomes]
rs7303330	1.00[ASN][1000 genomes]
rs7304873	1.00[ASN][1000 genomes]
rs7308229	1.00[ASN][1000 genomes]
rs7309500	1.00[ASN][1000 genomes]
rs7311532	1.00[ASN][1000 genomes]
rs7316772	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73174576	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73176549	0.82[ASN][1000 genomes]
rs73176583	1.00[ASN][1000 genomes]
rs73184562	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7397266	0.90[ASN][1000 genomes]
rs7399276	0.82[ASN][1000 genomes]
rs7399277	0.82[ASN][1000 genomes]
rs7953318	1.00[ASN][1000 genomes]
rs7953353	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957170	1.00[ASN][1000 genomes]
rs7960130	1.00[ASN][1000 genomes]
rs7962874	0.91[YRI][hapmap]
rs7965339	0.91[YRI][hapmap]
rs7965388	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7967183	1.00[ASN][1000 genomes]
rs7968248	1.00[ASN][1000 genomes]
rs7970081	1.00[ASN][1000 genomes]
rs7970732	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970842	1.00[ASN][1000 genomes]
rs7974167	0.96[AMR][1000 genomes];0.99[EUR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86199800-86228200	Weak transcription	Left Ventricle	heart
2	chr12:86219200-86227800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:86219800-86229400	Weak transcription	Stomach Mucosa	stomach
4	chr12:86222000-86226400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:86222400-86224800	Enhancers	HMEC	breast
6	chr12:86222400-86226200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:86222400-86226200	Enhancers	NHEK	skin
8	chr12:86222600-86225200	Weak transcription	Fetal Kidney	kidney
9	chr12:86222600-86225600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:86223000-86224800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:86223200-86229600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:86223400-86225200	Enhancers	NHDF-Ad	bronchial
13	chr12:86223400-86226400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:86223800-86224800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:86223800-86229000	Weak transcription	HSMM	muscle
16	chr12:86224000-86224800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:86224200-86224800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:86224200-86228200	Weak transcription	NH-A	brain
19	chr12:86224200-86228200	Weak transcription	Osteobl	bone
20	chr12:86224400-86224800	Enhancers	Hela-S3	cervix
21	chr12:86224400-86226000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:86224600-86224800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:86224600-86225200	Enhancers	Adipose Nuclei	Adipose
24	chr12:86224600-86225800	Enhancers	Fetal Heart	heart
25	chr12:86224600-86226000	Enhancers	HUVEC	blood vessel

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