Variant report

Variant	rs4974488
Chromosome Location	chr3:134168137-134168138
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134026198..134027834-chr3:134167829..134169129,15	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	chr3:133931774..133932354-chr3:134167857..134168700,2	MCF-7	breast:
6	chr3:134090911..134094282-chr3:134164526..134168803,5	MCF-7	breast:
7	chr3:134100896..134101491-chr3:134167896..134168544,2	MCF-7	breast:
8	chr3:134031868..134032549-chr3:134167828..134168721,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114019	Chromatin interaction
ENSG00000240006	Chromatin interaction
ENSG00000260633	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10935113	0.84[ASN][1000 genomes]
rs12695612	0.80[AMR][1000 genomes]
rs12695613	0.81[AMR][1000 genomes]
rs13074557	0.82[ASN][1000 genomes]
rs13088645	0.91[ASN][1000 genomes]
rs1366067	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391695	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1498726	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7650509	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9847750	0.85[ASN][1000 genomes]
rs9851770	0.80[AMR][1000 genomes]
rs9857134	0.80[AMR][1000 genomes]
rs9879993	0.93[AMR][1000 genomes];0.99[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
rs4974488	ANAPC13	cis	Esophagus Mucosa	GTEx
rs4974488	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs4974488	ANAPC13	cis	Esophagus Muscularis	GTEx
rs4974488	ANAPC13	cis	lung	GTEx
rs4974488	CEP63	cis	Artery Tibial	GTEx
rs4974488	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs4974488	ANAPC13	cis	Artery Tibial	GTEx
rs4974488	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs4974488	ANAPC13	cis	Thyroid	GTEx
rs4974488	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs4974488	ANAPC13	cis	multi-tissue	Pritchard
rs4974488	ANAPC13	cis	Nerve Tibial	GTEx
rs4974488	ANAPC13	cis	Muscle Skeletal	GTEx

Chromatin state (count:41 , 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	chr3:134164600-134169000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:134165200-134168400	Weak transcription	Pancreas	Pancrea
4	chr3:134166000-134168600	Weak transcription	Fetal Stomach	stomach
5	chr3:134166000-134181800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:134166200-134168200	Weak transcription	Spleen	Spleen
7	chr3:134166600-134168200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:134166600-134168200	Weak transcription	HSMM	muscle
9	chr3:134166600-134168400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:134166600-134168600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:134166600-134168600	Weak transcription	HUVEC	blood vessel
12	chr3:134166600-134170600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:134166600-134170600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:134166800-134168200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:134166800-134168200	Weak transcription	Placenta	Placenta
16	chr3:134166800-134168200	Weak transcription	Right Atrium	heart
17	chr3:134166800-134168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:134166800-134168800	Enhancers	Brain Angular Gyrus	brain
19	chr3:134166800-134168800	Weak transcription	HSMMtube	muscle
20	chr3:134167000-134168200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:134167000-134168200	Weak transcription	Gastric	stomach
22	chr3:134167000-134168200	Weak transcription	Lung	lung
23	chr3:134167000-134168400	Weak transcription	Adipose Nuclei	Adipose
24	chr3:134167000-134168600	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:134167200-134168200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:134167200-134170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:134167200-134181800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:134167400-134168600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:134167400-134168600	Enhancers	Osteobl	bone
30	chr3:134167400-134168800	Enhancers	Brain Cingulate Gyrus	brain
31	chr3:134167400-134169200	Enhancers	Brain Substantia Nigra	brain
32	chr3:134168000-134168200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:134168000-134168200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:134168000-134168200	Enhancers	NHEK	skin
35	chr3:134168000-134168600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:134168000-134168800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr3:134168000-134168800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:134168000-134168800	Enhancers	Brain Anterior Caudate	brain
39	chr3:134168000-134168800	Enhancers	Brain Hippocampus Middle	brain
40	chr3:134168000-134168800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:134168000-134169400	Enhancers	NHDF-Ad	bronchial

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