Variant report

Variant	rs1366067
Chromosome Location	chr3:134168830-134168831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134026198..134027834-chr3:134167829..134169129,15	MCF-7	breast:
2	chr3:134067283..134070509-chr3:134166308..134168858,3	MCF-7	breast:
3	chr3:134091613..134095101-chr3:134167138..134172808,9	MCF-7	breast:
4	chr3:134027693..134029568-chr3:134168349..134170249,2	MCF-7	breast:
5	chr3:134168366..134171217-chr3:134174979..134176688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114019	Chromatin interaction
ENSG00000260633	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10935113	0.84[ASN][1000 genomes]
rs13074557	0.82[ASN][1000 genomes]
rs13088645	0.91[ASN][1000 genomes]
rs1391695	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1498726	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2241556	0.81[CHB][hapmap]
rs4974488	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767595	0.88[CHB][hapmap]
rs6805388	0.80[CHB][hapmap]
rs7623580	0.82[AMR][1000 genomes]
rs7650509	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9790169	0.88[CHB][hapmap]
rs9835166	0.82[AMR][1000 genomes]
rs9847750	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs9847788	0.82[CHB][hapmap]
rs9851770	0.81[AMR][1000 genomes]
rs9857134	0.81[AMR][1000 genomes]
rs9879993	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	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

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs1366067	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs1366067	CEP63	cis	Artery Tibial	GTEx
rs1366067	ANAPC13	cis	lung	GTEx
rs1366067	ANAPC13	cis	Muscle Skeletal	GTEx
rs1366067	ANAPC13	cis	multi-tissue	Pritchard
rs1366067	ANAPC13	cis	Thyroid	GTEx
rs1366067	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs1366067	ANAPC13	cis	Esophagus Mucosa	GTEx
rs1366067	ANAPC13	cis	Nerve Tibial	GTEx
rs1366067	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs1366067	ANAPC13	cis	uninvolved skin	skin_eQTL
rs1366067	ANAPC13	cis	Esophagus Muscularis	GTEx
rs1366067	ANAPC13	cis	lesional skin	skin_eQTL
rs1366067	CEP63	cis	Esophagus Muscularis	GTEx
rs1366067	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs1366067	ANAPC13	cis	Artery Tibial	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134164600-134169000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:134166000-134181800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:134166600-134170600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:134166600-134170600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:134167200-134170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:134167200-134181800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:134167400-134169200	Enhancers	Brain Substantia Nigra	brain
8	chr3:134168000-134169400	Enhancers	NHDF-Ad	bronchial
9	chr3:134168200-134169200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:134168200-134169200	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:134168200-134169600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:134168400-134169000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:134168400-134169000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:134168600-134169200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:134168600-134169200	Enhancers	Fetal Muscle Leg	muscle
16	chr3:134168600-134170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:134168600-134170600	Weak transcription	Osteobl	bone
18	chr3:134168800-134169000	Enhancers	Fetal Stomach	stomach
19	chr3:134168800-134169000	Enhancers	HUVEC	blood vessel
20	chr3:134168800-134169400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:134168800-134169400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:134168800-134170400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:134168800-134170600	Weak transcription	Spleen	Spleen
24	chr3:134168800-134176400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:134168800-134176600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:134168800-134176600	Weak transcription	Right Atrium	heart

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