Variant report

Variant	rs11712243
Chromosome Location	chr3:81840674-81840675
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81837156..81838944-chr3:81840040..81842105,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11127740	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs11127742	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11707026	0.93[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs11711024	0.83[EUR][1000 genomes]
rs11711331	0.84[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs11715625	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11915042	0.90[EUR][1000 genomes]
rs12152272	0.83[EUR][1000 genomes]
rs13062741	0.95[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs13065281	0.96[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs13072957	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs13073613	0.91[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs13074632	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13075250	0.80[EUR][1000 genomes]
rs13079104	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs13080520	0.91[CEU][hapmap];0.95[GIH][hapmap]
rs13083476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13088000	0.90[EUR][1000 genomes]
rs13092157	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13099615	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap]
rs1464790	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1524557	0.83[EUR][1000 genomes]
rs17019299	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2053805	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2229519	0.93[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap]
rs2290081	0.86[EUR][1000 genomes]
rs3755713	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3772882	0.80[CEU][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap]
rs3772883	0.80[CEU][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap]
rs3772884	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3772891	0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs3772896	0.87[CEU][hapmap]
rs3821548	0.88[CEU][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap]
rs3821551	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs3821552	0.96[CEU][hapmap];0.90[YRI][hapmap]
rs3849570	0.84[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap]
rs3849571	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs3860595	0.80[CEU][hapmap]
rs3943556	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs4411908	0.80[CEU][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap]
rs6548773	0.90[EUR][1000 genomes]
rs6792696	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6795133	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs6804587	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7620240	0.88[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap]
rs7631052	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7634258	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7642112	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs7648245	0.83[EUR][1000 genomes]
rs9817181	0.89[EUR][1000 genomes]
rs9826270	0.90[EUR][1000 genomes]
rs9842330	0.87[EUR][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	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11712243	GBE1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81840200-81840800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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