Variant report

Variant	rs1476453
Chromosome Location	chr12:120045310-120045311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10732608	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10744740	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744741	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744742	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774504	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774505	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774507	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10774509	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10849673	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849674	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849679	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849682	0.94[ASN][1000 genomes]
rs10849683	0.92[ASN][1000 genomes]
rs10849684	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10849685	0.94[CEU][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849687	0.88[EUR][1000 genomes]
rs11064842	0.91[ASN][1000 genomes]
rs11064843	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11064855	0.92[ASN][1000 genomes]
rs11064856	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11064858	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11064861	0.80[ASN][1000 genomes]
rs11064864	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11064868	0.89[EUR][1000 genomes]
rs1109856	0.87[ASN][1000 genomes]
rs1154836	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12579854	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12582735	0.95[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12708371	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12827937	0.98[ASN][1000 genomes]
rs1303904	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1319529	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1858982	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1966324	0.85[EUR][1000 genomes]
rs2015795	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2078938	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2157806	0.98[ASN][1000 genomes]
rs2301653	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2301654	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2301655	0.86[CHD][hapmap];0.87[GIH][hapmap]
rs2893796	0.98[ASN][1000 genomes]
rs2893805	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3847956	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766944	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4766945	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4767830	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4767831	0.84[ASN][1000 genomes]
rs4767832	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767833	0.99[ASN][1000 genomes]
rs4767834	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4767835	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6490260	0.94[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490261	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490262	0.90[EUR][1000 genomes]
rs7138785	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7295362	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306273	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310741	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316295	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs739423	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954674	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7955433	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7955441	0.81[CHB][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7957284	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7958547	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7959425	0.82[ASN][1000 genomes]
rs7965791	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7978341	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7981024	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120034600-120048200	Weak transcription	HSMMtube	muscle
2	chr12:120036600-120046000	Weak transcription	HSMM	muscle
3	chr12:120036600-120049000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:120042400-120051400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:120042600-120047400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:120044600-120045800	Strong transcription	Psoas Muscle	Psoas

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