Variant report

Variant	rs12581205
Chromosome Location	chr12:47112707-47112708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11183539	0.86[EUR][1000 genomes]
rs11183547	0.86[EUR][1000 genomes]
rs11183550	0.86[EUR][1000 genomes]
rs11830099	0.84[EUR][1000 genomes]
rs11830501	0.84[EUR][1000 genomes]
rs11831177	0.85[AMR][1000 genomes]
rs11831920	0.84[EUR][1000 genomes]
rs11831929	0.84[EUR][1000 genomes]
rs11832316	0.84[EUR][1000 genomes]
rs11835517	0.84[EUR][1000 genomes]
rs11835974	0.84[EUR][1000 genomes]
rs11836940	0.84[EUR][1000 genomes]
rs11837104	0.84[EUR][1000 genomes]
rs12578813	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12579089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12579348	0.84[EUR][1000 genomes]
rs12579976	0.84[EUR][1000 genomes]
rs12580092	0.81[EUR][1000 genomes]
rs12580356	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12580488	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12581311	0.87[EUR][1000 genomes]
rs12581366	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12582013	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12582034	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12582056	0.86[EUR][1000 genomes]
rs12582305	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12582476	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17096995	0.84[EUR][1000 genomes]
rs17097009	0.84[EUR][1000 genomes]
rs17097022	0.84[EUR][1000 genomes]
rs17121412	0.84[EUR][1000 genomes]
rs17594275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17611638	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2042058	0.91[EUR][1000 genomes]
rs2193663	0.84[EUR][1000 genomes]
rs2216439	0.81[EUR][1000 genomes]
rs235601	0.86[EUR][1000 genomes]
rs235602	0.86[EUR][1000 genomes]
rs235607	0.89[EUR][1000 genomes]
rs235610	0.86[EUR][1000 genomes]
rs235616	0.86[EUR][1000 genomes]
rs235621	0.89[EUR][1000 genomes]
rs235622	0.89[EUR][1000 genomes]
rs235625	0.89[EUR][1000 genomes]
rs235626	0.89[EUR][1000 genomes]
rs235627	0.89[EUR][1000 genomes]
rs2408576	0.84[EUR][1000 genomes]
rs2430946	0.84[EUR][1000 genomes]
rs2430947	0.80[EUR][1000 genomes]
rs2897969	0.80[EUR][1000 genomes]
rs34008890	0.89[EUR][1000 genomes]
rs35096979	0.89[EUR][1000 genomes]
rs4604970	0.84[EUR][1000 genomes]
rs4768741	0.81[EUR][1000 genomes]
rs4768742	0.86[EUR][1000 genomes]
rs4768744	0.88[EUR][1000 genomes]
rs56111534	0.80[EUR][1000 genomes]
rs56152575	0.84[EUR][1000 genomes]
rs56181923	0.84[EUR][1000 genomes]
rs56271434	0.84[EUR][1000 genomes]
rs57370043	0.89[EUR][1000 genomes]
rs58449317	0.84[EUR][1000 genomes]
rs58503088	0.84[EUR][1000 genomes]
rs58561072	0.89[EUR][1000 genomes]
rs58813899	0.84[EUR][1000 genomes]
rs59903937	0.84[EUR][1000 genomes]
rs60049938	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60669661	0.84[EUR][1000 genomes]
rs60681792	0.84[EUR][1000 genomes]
rs61641663	0.89[EUR][1000 genomes]
rs7138914	0.84[EUR][1000 genomes]
rs7308386	0.84[EUR][1000 genomes]
rs7310408	0.88[EUR][1000 genomes]
rs73282109	0.89[EUR][1000 genomes]
rs73290364	0.84[AMR][1000 genomes]
rs73290402	0.84[EUR][1000 genomes]
rs73291964	0.84[EUR][1000 genomes]
rs73291976	0.84[EUR][1000 genomes]
rs73291980	0.84[EUR][1000 genomes]
rs73292000	0.84[EUR][1000 genomes]
rs73293911	0.84[EUR][1000 genomes]
rs73293919	0.84[EUR][1000 genomes]
rs74085431	0.85[AMR][1000 genomes]
rs765707	0.84[EUR][1000 genomes]
rs766794	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7976710	0.84[EUR][1000 genomes]
rs977069	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47103000-47116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:47111800-47113000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr12:47112200-47116200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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