Variant report

Variant	rs1585815
Chromosome Location	chr7:147131432-147131433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1018991	0.89[GIH][hapmap];0.81[TSI][hapmap]
rs10228191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs10236330	0.86[JPT][hapmap]
rs10239550	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10264424	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10265626	0.87[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs10267232	0.89[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs12112534	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1304809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13230403	0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap]
rs1479841	0.91[JPT][hapmap]
rs1479842	0.91[JPT][hapmap]
rs1479847	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528532	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs1585816	0.87[YRI][hapmap]
rs1819068	0.82[YRI][hapmap]
rs1842275	0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2620438	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2620472	0.91[JPT][hapmap]
rs2620475	0.84[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2692131	0.91[JPT][hapmap]
rs2697452	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2697453	0.94[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2697457	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs28546178	0.81[JPT][hapmap]
rs6464815	0.96[GIH][hapmap];0.90[JPT][hapmap]
rs700293	1.00[CEU][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs700296	1.00[CEU][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap]
rs700298	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap]
rs700299	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs700300	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs700301	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs700306	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs700308	0.91[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs700311	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs700312	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs700313	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7778880	0.89[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs826641	0.91[JPT][hapmap]
rs826642	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs826645	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.98[ASN][1000 genomes]
rs826646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs826648	0.96[ASN][1000 genomes]
rs826649	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs826650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826651	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826652	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap]
rs826655	0.89[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826656	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826657	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826658	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826659	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826660	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826661	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826662	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826663	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826664	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826786	1.00[CEU][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap]
rs826788	0.89[JPT][hapmap]
rs826793	0.91[JPT][hapmap]
rs826802	0.81[JPT][hapmap]
rs826812	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs826813	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs826814	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs826823	0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs872713	0.94[CHB][hapmap];1.00[JPT][hapmap]

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	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
2	nsv608954	chr7:147104887-147145576	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv1024540	chr7:147105149-147138125	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1585815	ATP6V0E2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147129000-147132200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:147130000-147135200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:147130400-147131800	Weak transcription	Gastric	stomach

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