Variant report

Variant	rs11715689
Chromosome Location	chr3:48770281-48770282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1048940	0.82[AMR][1000 genomes]
rs11557629	0.80[AMR][1000 genomes]
rs11705888	0.95[ASN][1000 genomes]
rs11706052	0.89[AMR][1000 genomes]
rs11706203	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11706983	0.80[AMR][1000 genomes]
rs11708022	0.96[AMR][1000 genomes]
rs11708786	0.80[AMR][1000 genomes];0.81[EUR][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]
rs11715713	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];0.95[ASN][1000 genomes]
rs11717978	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11719291	0.80[AMR][1000 genomes]
rs11719457	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs13063223	0.80[AMR][1000 genomes];0.81[EUR][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];0.85[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]
rs13090839	0.93[AMR][1000 genomes]
rs13094900	0.93[AMR][1000 genomes]
rs13316551	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13324950	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13434258	0.80[AMR][1000 genomes]
rs1352420	0.82[ASN][1000 genomes]
rs17080319	0.80[AMR][1000 genomes]
rs28567949	0.80[AMR][1000 genomes]
rs28657585	0.80[AMR][1000 genomes]
rs28793701	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34037363	0.89[AMR][1000 genomes]
rs34153629	0.80[AMR][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]
rs35108630	0.89[AMR][1000 genomes]
rs3923475	0.89[AMR][1000 genomes]
rs4077495	0.80[AMR][1000 genomes];0.81[EUR][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	0.90[ASN][1000 genomes]
rs67060340	0.93[AMR][1000 genomes]
rs67332931	0.96[AMR][1000 genomes]
rs6791542	0.95[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]
rs9834996	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9877542	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9877685	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9882549	0.80[AMR][1000 genomes];0.81[EUR][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11715689	WDR6	cis	Adipose Subcutaneous	GTEx
rs11715689	WDR6	cis	Whole Blood	GTEx
rs11715689	USP4	Cis_1M	lymphoblastoid	RTeQTL
rs11715689	WDR6	cis	Esophagus Mucosa	GTEx
rs11715689	WDR6	cis	Artery Tibial	GTEx
rs11715689	WDR6	cis	Skin Sun Exposed Lower leg	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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