Variant report

Variant	rs12695612
Chromosome Location	chr3:134161824-134161825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134091048..134093142-chr3:134160281..134163613,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114019	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs11916983	0.91[ASN][1000 genomes]
rs11917131	0.91[ASN][1000 genomes]
rs11917156	0.91[ASN][1000 genomes]
rs11924801	0.91[ASN][1000 genomes]
rs12695613	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13059980	0.91[ASN][1000 genomes]
rs13066038	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13067502	0.91[ASN][1000 genomes]
rs13067509	0.91[ASN][1000 genomes]
rs13074369	0.91[ASN][1000 genomes]
rs13075432	0.89[ASN][1000 genomes]
rs1391695	0.80[AMR][1000 genomes]
rs2241557	0.91[ASN][1000 genomes]
rs34102849	0.91[ASN][1000 genomes]
rs35088484	0.91[ASN][1000 genomes]
rs35394720	0.91[ASN][1000 genomes]
rs35922016	0.91[ASN][1000 genomes]
rs35944310	0.91[ASN][1000 genomes]
rs4312629	0.91[ASN][1000 genomes]
rs4552325	0.91[ASN][1000 genomes]
rs4596118	0.91[ASN][1000 genomes]
rs4605513	0.91[ASN][1000 genomes]
rs4607082	0.91[ASN][1000 genomes]
rs4974488	0.80[AMR][1000 genomes]
rs6771701	0.91[ASN][1000 genomes]
rs6791295	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796705	0.91[ASN][1000 genomes]
rs7623580	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644093	0.89[ASN][1000 genomes]
rs7644251	0.89[ASN][1000 genomes]
rs7647128	0.86[ASN][1000 genomes]
rs9789971	0.91[ASN][1000 genomes]
rs9789972	0.91[ASN][1000 genomes]
rs9809989	0.91[ASN][1000 genomes]
rs9822766	0.91[ASN][1000 genomes]
rs9826589	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829477	0.91[ASN][1000 genomes]
rs9829637	0.89[ASN][1000 genomes]
rs9835166	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9839295	0.91[ASN][1000 genomes]
rs9848223	0.88[ASN][1000 genomes]
rs9851770	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857134	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12695612	ANAPC13	cis	Artery Tibial	GTEx
rs12695612	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs12695612	ANAPC13	cis	Muscle Skeletal	GTEx
rs12695612	ANAPC13	cis	Esophagus Muscularis	GTEx
rs12695612	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs12695612	ANAPC13	cis	Nerve Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134160400-134162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:134160400-134164400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:134160800-134164400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:134160800-134164400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:134161000-134164400	Weak transcription	NHEK	skin
6	chr3:134161200-134163200	Weak transcription	Osteobl	bone
7	chr3:134161200-134163800	Weak transcription	NHDF-Ad	bronchial
8	chr3:134161200-134164400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:134161200-134164400	Weak transcription	Fetal Lung	lung
10	chr3:134161200-134166600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:134161400-134163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:134161400-134164200	Weak transcription	Adipose Nuclei	Adipose
13	chr3:134161400-134164400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:134161400-134164400	Weak transcription	HMEC	breast
15	chr3:134161600-134164400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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