Variant report

Variant	rs11715713
Chromosome Location	chr3:48770306-48770307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1048940	0.82[AMR][1000 genomes]
rs11557629	0.80[AMR][1000 genomes]
rs11705888	0.90[ASN][1000 genomes]
rs11706052	0.89[AMR][1000 genomes]
rs11706203	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11706983	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11708022	0.96[AMR][1000 genomes]
rs11708786	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11709092	0.93[AMR][1000 genomes]
rs11709246	0.96[AMR][1000 genomes]
rs11713694	0.96[AMR][1000 genomes]
rs11715177	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11715689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11715835	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717978	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11719291	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11719457	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs13063223	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13072554	0.89[AMR][1000 genomes]
rs13073997	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs13074318	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13080725	0.89[AMR][1000 genomes]
rs13084000	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13086240	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs13087930	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs13090013	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13090839	0.93[AMR][1000 genomes]
rs13094900	0.93[AMR][1000 genomes]
rs13316551	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13324950	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13434258	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17080319	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28567949	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28657585	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28793701	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34037363	0.89[AMR][1000 genomes]
rs34153629	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34477108	0.96[AMR][1000 genomes]
rs34504524	0.89[AMR][1000 genomes]
rs34509487	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs35064573	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35108630	0.89[AMR][1000 genomes]
rs3923475	0.89[AMR][1000 genomes]
rs4077495	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55761431	0.82[AMR][1000 genomes]
rs56318350	0.93[AMR][1000 genomes]
rs56735597	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61729488	0.89[AMR][1000 genomes]
rs6442130	0.95[ASN][1000 genomes]
rs67060340	0.93[AMR][1000 genomes]
rs67332931	0.96[AMR][1000 genomes]
rs6791542	0.90[ASN][1000 genomes]
rs71324924	0.96[AMR][1000 genomes]
rs71324929	0.89[AMR][1000 genomes]
rs73078349	0.85[AMR][1000 genomes]
rs73078362	0.85[AMR][1000 genomes]
rs73080312	0.82[AMR][1000 genomes]
rs73080361	0.85[AMR][1000 genomes]
rs9811027	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9834996	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9877542	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9877685	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9882549	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11715713	WDR6	cis	Whole Blood	GTEx
rs11715713	WDR6	cis	Esophagus Mucosa	GTEx
rs11715713	WDR6	cis	Adipose Subcutaneous	GTEx
rs11715713	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs11715713	WDR6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48769800-48771000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:48770000-48772800	Weak transcription	Rectal Mucosa Donor 31	rectum

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