Variant report

Variant	rs7532578
Chromosome Location	chr1:178996344-178996345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:178994647..178996585-chr1:179051040..179053373,3	MCF-7	breast:
2	chr1:178994037..178996559-chr6:26216842..26218993,2	MCF-7	breast:
3	chr1:178993182..178999783-chr1:179045102..179052535,14	MCF-7	breast:
4	chr1:178995068..178997335-chr1:179038354..179040451,4	K562	blood:

Variant related genes	Relation type
ENSG00000187990	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000186283	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10082052	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10913672	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11581232	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2182102	0.85[AMR][1000 genomes]
rs2296377	0.80[AMR][1000 genomes]
rs3813638	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4360489	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4652344	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652348	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61823786	0.84[ASN][1000 genomes]
rs6425512	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6425515	0.85[EUR][1000 genomes]
rs6697029	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7538498	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7544801	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	esv3420967	chr1:178993954-178996502	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	esv3396952	chr1:178994279-178996377	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7532578	TOR3A	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178994000-178996400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:178994200-178996400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:178994200-178996400	Active TSS	Aorta	Aorta
4	chr1:178994200-178996600	Active TSS	Colonic Mucosa	Colon
5	chr1:178994200-178996800	Active TSS	Psoas Muscle	Psoas
6	chr1:178994200-178996800	Active TSS	NHDF-Ad	bronchial
7	chr1:178994400-178996400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:178994400-178996400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:178994400-178996400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:178994400-178996400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:178994400-178996400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:178994400-178996400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:178994400-178996400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:178994400-178996400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:178994400-178996600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:178994400-178996600	Active TSS	Ovary	ovary
17	chr1:178994400-178996800	Active TSS	Right Ventricle	heart
18	chr1:178994400-178997000	Active TSS	HMEC	breast
19	chr1:178994600-178996400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:178994600-178996400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:178994600-178996400	Active TSS	Esophagus	oesophagus
22	chr1:178994600-178996400	Active TSS	Fetal Intestine Large	intestine
23	chr1:178994600-178996400	Active TSS	Fetal Intestine Small	intestine
24	chr1:178994600-178996400	Active TSS	Small Intestine	intestine
25	chr1:178994600-178996600	Active TSS	A549	lung
26	chr1:178994600-178997000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:178994600-178997000	Active TSS	NHLF	lung
28	chr1:178994600-178997200	Active TSS	GM12878-XiMat	blood
29	chr1:178994800-178996400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:178994800-178996400	Active TSS	Fetal Muscle Trunk	muscle
31	chr1:178994800-178996600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:178994800-178996600	Active TSS	HSMM	muscle
33	chr1:178994800-178996600	Active TSS	HSMMtube	muscle
34	chr1:178995000-178996800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:178995400-178996600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:178995600-178996400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:178995600-178996400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:178995600-178996400	Flanking Active TSS	Thymus	Thymus
39	chr1:178995600-178996600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr1:178995600-178997000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:178995800-178996400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:178995800-178996400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr1:178995800-178996400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:178995800-178996400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:178995800-178996400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:178995800-178996400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:178995800-178996400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:178995800-178996400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr1:178995800-178996400	Flanking Active TSS	Fetal Thymus	thymus
50	chr1:178995800-178996600	Flanking Active TSS	Adipose Nuclei	Adipose

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