Variant report

Variant	rs11130206
Chromosome Location	chr3:49596593-49596594
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49591238..49594235-chr3:49595852..49599097,3	K562	blood:
2	chr3:49593547..49595317-chr3:49595809..49597348,2	K562	blood:
3	chr3:49594418..49597323-chr3:49680831..49683098,2	K562	blood:

Variant related genes	Relation type
ENSG00000164061	Chromatin interaction
ENSG00000226913	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1050088	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10865955	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11130193	0.82[EUR][1000 genomes]
rs11130194	0.81[EUR][1000 genomes]
rs11130196	0.81[EUR][1000 genomes]
rs11130199	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130202	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130203	0.84[ASN][1000 genomes]
rs11712569	0.84[ASN][1000 genomes]
rs11713474	0.84[ASN][1000 genomes]
rs11719996	0.84[ASN][1000 genomes]
rs11720264	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11720458	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11926781	0.84[ASN][1000 genomes]
rs12330269	0.84[ASN][1000 genomes]
rs12488065	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12489092	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12636099	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs13079082	0.84[ASN][1000 genomes]
rs13096760	0.83[EUR][1000 genomes]
rs1568661	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1568662	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1801143	0.84[ASN][1000 genomes]
rs2312461	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34293138	0.84[ASN][1000 genomes]
rs34363169	0.84[ASN][1000 genomes]
rs34427167	0.84[ASN][1000 genomes]
rs35261698	0.84[ASN][1000 genomes]
rs35701831	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35999162	0.88[ASN][1000 genomes]
rs3811697	0.84[ASN][1000 genomes]
rs3870337	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3870338	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3877784	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3924462	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3924463	0.88[EUR][1000 genomes]
rs3926569	0.80[ASN][1000 genomes]
rs4241406	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4241408	0.88[EUR][1000 genomes]
rs4625	0.84[ASN][1000 genomes]
rs4855836	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4855839	0.82[EUR][1000 genomes]
rs4855855	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4855859	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4855861	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4855864	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4855866	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59152804	0.83[EUR][1000 genomes]
rs62261185	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6766131	0.84[ASN][1000 genomes]
rs6766581	0.84[ASN][1000 genomes]
rs6787417	0.86[AFR][1000 genomes]
rs6797664	0.84[ASN][1000 genomes]
rs71615484	0.80[ASN][1000 genomes]
rs7371895	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7622302	0.84[ASN][1000 genomes]
rs7633271	0.84[ASN][1000 genomes]
rs7637665	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7637999	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7643845	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7645445	0.85[EUR][1000 genomes]
rs885592	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9818590	0.84[ASN][1000 genomes]
rs9827021	0.84[ASN][1000 genomes]
rs9837027	0.92[ASN][1000 genomes]
rs9850072	0.84[ASN][1000 genomes]
rs9853683	0.84[ASN][1000 genomes]
rs9858280	0.88[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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11130206	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs11130206	WDR6	cis	Adipose Subcutaneous	GTEx
rs11130206	WDR6	cis	lung	GTEx
rs11130206	IHPK2	Cis_1M	lymphoblastoid	RTeQTL
rs11130206	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs11130206	WDR6	cis	Whole Blood	GTEx
rs11130206	WDR6	cis	Nerve Tibial	GTEx
rs11130206	AMT	cis	Thyroid	GTEx
rs11130206	WDR6	cis	Artery Tibial	GTEx
rs11130206	BSN-AS2	cis	Muscle Skeletal	GTEx
rs11130206	WDR6	cis	Muscle Skeletal	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49593000-49596800	Weak transcription	Dnd41	blood
2	chr3:49596000-49599400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:49596000-49600000	Weak transcription	Brain Anterior Caudate	brain
4	chr3:49596000-49615000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:49596000-49616800	Weak transcription	Fetal Brain Female	brain
6	chr3:49596200-49596800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:49596200-49598200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:49596200-49599200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:49596200-49600000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:49596200-49600400	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:49596400-49597400	Weak transcription	Brain Angular Gyrus	brain

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