Variant report

Variant	rs12580356
Chromosome Location	chr12:47011134-47011135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10880980	0.85[EUR][1000 genomes]
rs11183524	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183536	0.88[EUR][1000 genomes]
rs11183539	0.95[EUR][1000 genomes]
rs11183547	0.95[EUR][1000 genomes]
rs11183550	0.95[EUR][1000 genomes]
rs11829502	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11830099	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11830501	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11831177	0.85[AMR][1000 genomes]
rs11831920	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11831929	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11832316	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11833393	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11834607	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11835517	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11835974	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11836915	0.85[EUR][1000 genomes]
rs11836940	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11837104	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12300125	0.88[EUR][1000 genomes]
rs12310635	0.85[EUR][1000 genomes]
rs12578813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579348	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12579976	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580092	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12581205	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12581311	0.96[EUR][1000 genomes]
rs12581366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12582034	0.84[AMR][1000 genomes]
rs12582056	0.95[EUR][1000 genomes]
rs12582305	0.84[AMR][1000 genomes]
rs12582476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096991	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17096995	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17097002	0.88[EUR][1000 genomes]
rs17097009	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17097022	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17121410	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17121412	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17594275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17611638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1946175	0.88[EUR][1000 genomes]
rs2042058	1.00[EUR][1000 genomes]
rs2193663	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2216439	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235601	0.95[EUR][1000 genomes]
rs235602	0.95[EUR][1000 genomes]
rs235607	0.91[EUR][1000 genomes]
rs235610	0.95[EUR][1000 genomes]
rs235616	0.87[EUR][1000 genomes]
rs235621	0.91[EUR][1000 genomes]
rs235622	0.91[EUR][1000 genomes]
rs235625	0.91[EUR][1000 genomes]
rs235626	0.91[EUR][1000 genomes]
rs235627	0.91[EUR][1000 genomes]
rs2408576	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2408577	0.88[EUR][1000 genomes]
rs2430937	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2430939	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2430940	0.88[EUR][1000 genomes]
rs2430941	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2430942	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2430943	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2430946	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2430947	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2471581	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471583	0.85[EUR][1000 genomes]
rs2471588	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471594	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2471601	0.88[EUR][1000 genomes]
rs2471602	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2471605	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2471608	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2471617	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2471618	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28768973	0.88[EUR][1000 genomes]
rs2897969	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2909411	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2960450	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34008890	0.91[EUR][1000 genomes]
rs35096979	0.91[EUR][1000 genomes]
rs4073924	0.85[EUR][1000 genomes]
rs4604970	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768125	0.81[EUR][1000 genomes]
rs4768741	0.82[EUR][1000 genomes]
rs4768742	0.88[EUR][1000 genomes]
rs4768744	0.90[EUR][1000 genomes]
rs56111534	0.88[EUR][1000 genomes]
rs56152575	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56181923	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56271434	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56399247	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57158113	0.85[EUR][1000 genomes]
rs57370043	0.91[EUR][1000 genomes]
rs57658610	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58449317	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58503088	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58561072	0.91[EUR][1000 genomes]
rs58813899	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59903937	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60049938	0.84[AMR][1000 genomes]
rs60191997	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60432604	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60669661	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60681792	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61072098	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61355826	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61641663	0.91[EUR][1000 genomes]
rs7138914	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7302876	0.84[EUR][1000 genomes]
rs7308386	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7310326	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7310408	0.90[EUR][1000 genomes]
rs73282109	0.91[EUR][1000 genomes]
rs73290364	0.84[AMR][1000 genomes]
rs73290381	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73290402	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73291964	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73291976	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73291980	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73292000	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73292001	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73293911	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73293919	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74085431	0.85[AMR][1000 genomes]
rs7484802	0.84[EUR][1000 genomes]
rs7488464	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs765707	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs766794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976710	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9669050	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs977069	0.95[EUR][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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1814000	chr12:47007493-47033254	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47003000-47012000	Weak transcription	Psoas Muscle	Psoas
2	chr12:47003000-47021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47003200-47025600	Weak transcription	NHEK	skin
4	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
5	chr12:47007200-47011600	Weak transcription	Left Ventricle	heart
6	chr12:47008600-47011200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:47009200-47013000	Weak transcription	Liver	Liver
8	chr12:47010200-47011200	Enhancers	NHDF-Ad	bronchial
9	chr12:47010400-47011200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:47010400-47011400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:47010400-47011400	Enhancers	Osteobl	bone
12	chr12:47010600-47011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:47010600-47011200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:47010800-47011200	Enhancers	Rectal Smooth Muscle	rectum
15	chr12:47010800-47011200	Active TSS	Stomach Smooth Muscle	stomach
16	chr12:47011000-47011200	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr12:47011000-47011200	Enhancers	NHLF	lung
18	chr12:47011000-47011400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:47011000-47011800	Active TSS	Skeletal Muscle Female	skeletal muscle

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