Variant report

Variant	rs1498726
Chromosome Location	chr3:134167300-134167301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134027338..134027879-chr3:134166952..134167798,2	MCF-7	breast:
2	chr3:134083400..134085267-chr3:134166824..134168581,2	MCF-7	breast:
3	chr3:134067283..134070509-chr3:134166308..134168858,3	MCF-7	breast:
4	chr3:134091613..134095101-chr3:134167138..134172808,9	MCF-7	breast:
5	chr3:134090911..134094282-chr3:134164526..134168803,5	MCF-7	breast:
6	chr3:134099796..134102271-chr3:134165390..134167707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260633	Chromatin interaction
ENSG00000114019	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10935113	0.83[ASN][1000 genomes]
rs13074557	0.82[ASN][1000 genomes]
rs13088645	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1366067	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1391695	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4974488	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7620040	0.83[AMR][1000 genomes]
rs7650509	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9847750	0.84[ASN][1000 genomes]
rs9879993	0.92[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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs1498726	ANAPC13	cis	Thyroid	GTEx
rs1498726	ANAPC13	cis	Esophagus Muscularis	GTEx
rs1498726	ANAPC13	cis	Artery Tibial	GTEx
rs1498726	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs1498726	ANAPC13	cis	Muscle Skeletal	GTEx
rs1498726	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs1498726	ANAPC13	cis	lung	GTEx
rs1498726	ANAPC13	cis	Nerve Tibial	GTEx
rs1498726	ANAPC13	cis	Esophagus Mucosa	GTEx
rs1498726	ANAPC13	cis	multi-tissue	Pritchard
rs1498726	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs1498726	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs1498726	CEP63	cis	Artery Tibial	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134164400-134168800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:134164600-134167400	Weak transcription	Brain Substantia Nigra	brain
3	chr3:134164600-134169000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:134165000-134167400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:134165200-134168400	Weak transcription	Pancreas	Pancrea
6	chr3:134165800-134167400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:134166000-134167400	Weak transcription	Fetal Lung	lung
8	chr3:134166000-134168600	Weak transcription	Fetal Stomach	stomach
9	chr3:134166000-134181800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:134166200-134168000	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:134166200-134168000	Weak transcription	NHEK	skin
12	chr3:134166200-134168200	Weak transcription	Spleen	Spleen
13	chr3:134166600-134168000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:134166600-134168000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:134166600-134168200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:134166600-134168200	Weak transcription	HSMM	muscle
17	chr3:134166600-134168400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:134166600-134168600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:134166600-134168600	Weak transcription	HUVEC	blood vessel
20	chr3:134166600-134170600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:134166600-134170600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:134166800-134167400	Weak transcription	Osteobl	bone
23	chr3:134166800-134168000	Weak transcription	NHDF-Ad	bronchial
24	chr3:134166800-134168200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:134166800-134168200	Weak transcription	Placenta	Placenta
26	chr3:134166800-134168200	Weak transcription	Right Atrium	heart
27	chr3:134166800-134168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:134166800-134168800	Enhancers	Brain Angular Gyrus	brain
29	chr3:134166800-134168800	Weak transcription	HSMMtube	muscle
30	chr3:134167000-134168200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:134167000-134168200	Weak transcription	Gastric	stomach
32	chr3:134167000-134168200	Weak transcription	Lung	lung
33	chr3:134167000-134168400	Weak transcription	Adipose Nuclei	Adipose
34	chr3:134167000-134168600	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:134167200-134167800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:134167200-134167800	Weak transcription	Fetal Kidney	kidney
37	chr3:134167200-134168200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:134167200-134170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:134167200-134181800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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