Variant report

Variant	rs13074557
Chromosome Location	chr3:134153526-134153527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:134153512-134153573	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134139570..134141496-chr3:134150691..134153669,2	MCF-7	breast:

Variant related genes	Relation type
HMGB3P13	TF binding region
MIR4788	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11916983	0.86[AMR][1000 genomes]
rs11917131	0.86[AMR][1000 genomes]
rs11917156	0.86[AMR][1000 genomes]
rs11924801	0.85[AMR][1000 genomes]
rs13059980	0.84[AMR][1000 genomes]
rs13067502	0.85[AMR][1000 genomes]
rs13067509	0.85[AMR][1000 genomes]
rs13074369	0.86[AMR][1000 genomes]
rs13075432	0.82[AMR][1000 genomes]
rs13088645	0.90[ASN][1000 genomes]
rs1366067	0.82[ASN][1000 genomes]
rs1391695	0.82[ASN][1000 genomes]
rs1498726	0.82[ASN][1000 genomes]
rs34102849	0.85[AMR][1000 genomes]
rs35088484	0.85[AMR][1000 genomes]
rs35394720	0.85[AMR][1000 genomes]
rs35922016	0.82[AMR][1000 genomes]
rs35944310	0.85[AMR][1000 genomes]
rs4312629	0.83[AMR][1000 genomes]
rs4552325	0.86[AMR][1000 genomes]
rs4596118	0.86[AMR][1000 genomes]
rs4605513	0.86[AMR][1000 genomes]
rs4607082	0.86[AMR][1000 genomes]
rs4974488	0.82[ASN][1000 genomes]
rs6767595	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7611834	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7644093	0.81[AMR][1000 genomes]
rs7644251	0.81[AMR][1000 genomes]
rs7650509	0.81[ASN][1000 genomes]
rs9789971	0.82[AMR][1000 genomes]
rs9789972	0.85[AMR][1000 genomes]
rs9790169	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9809989	0.83[AMR][1000 genomes]
rs9822766	0.86[AMR][1000 genomes]
rs9824904	0.84[AMR][1000 genomes]
rs9829477	0.85[AMR][1000 genomes]
rs9829637	0.85[AMR][1000 genomes]
rs9847750	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9848223	0.85[AMR][1000 genomes]
rs9879993	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	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
4	nsv1007607	chr3:134131521-134156814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	n/a
5	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13074557	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs13074557	ANAPC13	cis	Muscle Skeletal	GTEx
rs13074557	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs13074557	ANAPC13	cis	Artery Tibial	GTEx
rs13074557	CEP63	cis	lung	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134148000-134156000	Weak transcription	NHEK	skin
2	chr3:134148400-134159200	Weak transcription	Osteobl	bone
3	chr3:134149600-134154200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:134150400-134155800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:134151400-134154800	Weak transcription	Right Atrium	heart
6	chr3:134152000-134155800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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