Variant report

Variant	rs4652344
Chromosome Location	chr1:178991610-178991611
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	chr1:178989810..178992639-chr1:179050262..179052543,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186283	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10082052	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10913672	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182102	0.88[AMR][1000 genomes]
rs2296377	0.80[AMR][1000 genomes]
rs3813638	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4360489	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4652348	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61823786	0.83[ASN][1000 genomes]
rs6425512	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6697029	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7532578	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7538498	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7544801	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4652344	TOR3A	cis	Artery Tibial	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178986400-178994200	Weak transcription	Right Atrium	heart
2	chr1:178986400-178994200	Weak transcription	Spleen	Spleen
3	chr1:178986400-178994400	Weak transcription	Lung	lung
4	chr1:178986600-178994000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:178986800-178994200	Weak transcription	Liver	Liver
6	chr1:178987200-178994200	Weak transcription	Fetal Lung	lung
7	chr1:178987400-178994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:178987400-178994200	Weak transcription	Left Ventricle	heart
9	chr1:178987400-178994400	Weak transcription	Fetal Stomach	stomach
10	chr1:178989200-178994600	Weak transcription	Esophagus	oesophagus
11	chr1:178989600-178992600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:178989600-178992600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:178989600-178993000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:178989600-178993000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:178989600-178994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:178989600-178994600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:178989800-178994200	Weak transcription	Stomach Mucosa	stomach
18	chr1:178990400-178991800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:178990400-178993400	Enhancers	K562	blood
20	chr1:178990600-178991800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:178990600-178991800	Enhancers	Fetal Heart	heart
22	chr1:178991000-178991800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:178991000-178991800	Active TSS	Brain Anterior Caudate	brain
24	chr1:178991000-178992000	Flanking Active TSS	Osteobl	bone
25	chr1:178991200-178994200	Weak transcription	Aorta	Aorta
26	chr1:178991400-178991800	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr1:178991400-178991800	Enhancers	Colon Smooth Muscle	Colon
28	chr1:178991400-178991800	Enhancers	Fetal Brain Male	brain
29	chr1:178991400-178992800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:178991400-178993200	Weak transcription	HepG2	liver
31	chr1:178991400-178994400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:178991400-178994600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:178991600-178991800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:178991600-178991800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:178991600-178991800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:178991600-178991800	Enhancers	Rectal Smooth Muscle	rectum
37	chr1:178991600-178991800	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr1:178991600-178992000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:178991600-178992000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:178991600-178992000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr1:178991600-178992000	Enhancers	Brain Substantia Nigra	brain
42	chr1:178991600-178992400	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:178991600-178993000	Weak transcription	Brain Germinal Matrix	brain
44	chr1:178991600-178993600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:178991600-178993600	Weak transcription	Placenta	Placenta
46	chr1:178991600-178994000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:178991600-178994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:178991600-178994000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:178991600-178994000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:178991600-178994000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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