Variant report

Variant	rs2286127
Chromosome Location	chr7:147183143-147183144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1015932	0.85[ASW][hapmap]
rs1018992	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1018995	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10500181	0.81[CHD][hapmap]
rs10500184	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs10500186	0.82[CHB][hapmap]
rs11974837	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs11981369	1.00[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap]
rs11981922	0.92[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs12113127	0.81[GIH][hapmap];0.90[TSI][hapmap]
rs12530837	0.92[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap]
rs12531159	0.83[JPT][hapmap]
rs12531963	0.94[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap]
rs12536060	0.84[CEU][hapmap];0.90[TSI][hapmap]
rs12536336	0.83[JPT][hapmap]
rs12538269	0.84[CEU][hapmap]
rs12539907	0.81[CHB][hapmap];0.86[YRI][hapmap]
rs13245441	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[YRI][hapmap]
rs1528529	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs17170415	0.84[CEU][hapmap]
rs17170498	0.82[CHB][hapmap];0.88[GIH][hapmap]
rs1859547	0.80[JPT][hapmap]
rs2373130	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4142824	0.87[JPT][hapmap]
rs4621717	0.84[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs4726844	0.84[JPT][hapmap]
rs4726849	0.83[JPT][hapmap]
rs4726850	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs4726851	0.82[JPT][hapmap]
rs4726852	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs6945022	0.84[JPT][hapmap]
rs6945627	0.95[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap]
rs6952525	0.84[CEU][hapmap]
rs6968564	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6972649	0.84[CEU][hapmap]
rs6976677	0.84[CEU][hapmap]
rs6977497	0.84[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap]
rs6977507	0.84[CEU][hapmap]
rs6977519	0.84[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap]
rs721123	0.84[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap]
rs7458418	0.84[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap]
rs7783311	0.83[JPT][hapmap]
rs917127	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs9648846	0.83[JPT][hapmap]
rs971818	0.80[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931005	chr7:146730472-147381257	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2286127	C7orf33	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147180600-147183200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:147183000-147183200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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