Variant report

Variant	rs13066038
Chromosome Location	chr3:134157349-134157350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11916983	0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs11917131	0.95[ASN][1000 genomes]
rs11917156	0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs11924801	0.95[ASN][1000 genomes]
rs12695612	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12695613	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13059980	0.95[ASN][1000 genomes]
rs13067502	0.95[ASN][1000 genomes]
rs13067509	0.95[ASN][1000 genomes]
rs13074369	0.95[ASN][1000 genomes]
rs13075432	0.93[ASN][1000 genomes]
rs2241557	0.95[ASN][1000 genomes]
rs34102849	0.95[ASN][1000 genomes]
rs35088484	0.95[ASN][1000 genomes]
rs35394720	0.95[ASN][1000 genomes]
rs35922016	0.95[ASN][1000 genomes]
rs35944310	0.95[ASN][1000 genomes]
rs4312629	0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs4552325	0.95[ASN][1000 genomes]
rs4596118	0.95[ASN][1000 genomes]
rs4605513	0.95[ASN][1000 genomes]
rs4607082	0.95[ASN][1000 genomes]
rs6771701	0.95[ASN][1000 genomes]
rs6791295	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6796705	0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs7623580	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7637740	0.81[ASN][1000 genomes]
rs7644093	0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs7644251	0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs7647128	0.90[ASN][1000 genomes]
rs9789971	0.95[ASN][1000 genomes]
rs9789972	0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs9809989	0.95[ASN][1000 genomes]
rs9822766	0.95[ASN][1000 genomes]
rs9824904	0.82[ASN][1000 genomes]
rs9826589	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9829477	0.95[ASN][1000 genomes]
rs9829637	0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs9835166	0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9839295	0.95[ASN][1000 genomes]
rs9848223	0.91[ASN][1000 genomes]
rs9851770	0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9857134	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv967068	chr3:134153022-134165125	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs13066038	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs13066038	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs13066038	ANAPC13	cis	Nerve Tibial	GTEx
rs13066038	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs13066038	ANAPC13	cis	Muscle Skeletal	GTEx
rs13066038	ANAPC13	cis	Esophagus Mucosa	GTEx
rs13066038	CEP63	cis	Esophagus Muscularis	GTEx
rs13066038	ANAPC13	cis	Artery Tibial	GTEx
rs13066038	ANAPC13	cis	multi-tissue	Pritchard
rs13066038	ANAPC13	cis	Thyroid	GTEx
rs13066038	ANAPC13	cis	lung	GTEx
rs13066038	ANAPC13	cis	Esophagus Muscularis	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134148400-134159200	Weak transcription	Osteobl	bone
2	chr3:134155800-134157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:134155800-134157800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:134156400-134160200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:134156600-134157600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:134156800-134157600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:134156800-134159000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:134156800-134159200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:134156800-134159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:134156800-134159800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:134156800-134159800	Weak transcription	NHEK	skin
12	chr3:134157000-134159400	Weak transcription	HMEC	breast

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