Variant report

Variant	rs11720458
Chromosome Location	chr3:49610957-49610958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49603222..49606574-chr3:49608966..49612068,4	K562	blood:
2	chr3:49598309..49602377-chr3:49605664..49611011,5	K562	blood:
3	chr3:49609338..49612017-chr3:49707292..49709835,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1050088	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10865955	0.81[ASN][1000 genomes]
rs11130199	0.92[ASN][1000 genomes]
rs11130202	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11130203	0.86[ASN][1000 genomes]
rs11130206	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11712569	0.86[ASN][1000 genomes]
rs11713474	0.94[ASN][1000 genomes]
rs11719996	0.86[ASN][1000 genomes]
rs11720264	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11926781	0.94[ASN][1000 genomes]
rs12330269	0.86[ASN][1000 genomes]
rs12488065	0.87[ASN][1000 genomes]
rs12489092	0.92[ASN][1000 genomes]
rs12636099	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13079082	0.86[ASN][1000 genomes]
rs1568661	0.84[ASN][1000 genomes]
rs1801143	0.86[ASN][1000 genomes]
rs2312461	0.92[ASN][1000 genomes]
rs34196454	0.82[ASN][1000 genomes]
rs34293138	0.86[ASN][1000 genomes]
rs34363169	0.86[ASN][1000 genomes]
rs34427167	0.94[ASN][1000 genomes]
rs35261698	0.86[ASN][1000 genomes]
rs35701831	0.84[ASN][1000 genomes]
rs35999162	0.90[ASN][1000 genomes]
rs3811697	0.86[ASN][1000 genomes]
rs3870337	0.92[ASN][1000 genomes]
rs3870338	0.92[ASN][1000 genomes]
rs3877784	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3924462	0.92[ASN][1000 genomes]
rs3926569	0.82[ASN][1000 genomes]
rs4241406	1.00[ASN][1000 genomes]
rs4625	0.86[ASN][1000 genomes]
rs4855836	0.92[ASN][1000 genomes]
rs4855855	0.83[ASN][1000 genomes]
rs4855859	0.92[ASN][1000 genomes]
rs4855861	0.92[ASN][1000 genomes]
rs4855864	0.84[ASN][1000 genomes]
rs56116382	0.90[ASN][1000 genomes]
rs6766131	0.86[ASN][1000 genomes]
rs6766581	0.86[ASN][1000 genomes]
rs6787417	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6797664	0.86[ASN][1000 genomes]
rs71615484	0.82[ASN][1000 genomes]
rs7371895	0.80[ASN][1000 genomes]
rs7622302	0.86[ASN][1000 genomes]
rs7633271	0.86[ASN][1000 genomes]
rs7637999	0.92[ASN][1000 genomes]
rs7643845	0.92[ASN][1000 genomes]
rs885592	0.81[ASN][1000 genomes]
rs9818590	0.86[ASN][1000 genomes]
rs9827021	0.86[ASN][1000 genomes]
rs9837027	0.94[ASN][1000 genomes]
rs9850072	0.86[ASN][1000 genomes]
rs9853683	0.86[ASN][1000 genomes]
rs9858280	0.90[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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11720458	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs11720458	IHPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49596000-49615000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:49596000-49616800	Weak transcription	Fetal Brain Female	brain
3	chr3:49601200-49612200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:49608600-49615600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:49610600-49611000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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