Variant report

Variant	rs12021551
Chromosome Location	chr1:179053619-179053620
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:179053556-179053845	IMR90	lung:	n/a	n/a
2	MAFK	chr1:179053601-179053797	HepG2	liver:	n/a	n/a
3	MAFK	chr1:179053537-179053875	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179051673..179054487-chr1:179062645..179065575,2	K562	blood:
2	chr1:179051978..179053865-chr1:179066668..179068883,2	K562	blood:
3	chr1:179049424..179053663-chr1:179259743..179264339,5	MCF-7	breast:

Variant related genes	Relation type
TOR3A	TF binding region
ENSG00000057252	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10798649	0.80[AMR][1000 genomes]
rs10798650	0.85[AMR][1000 genomes]
rs10798651	0.85[AMR][1000 genomes]
rs10913682	0.80[AMR][1000 genomes]
rs2025584	0.85[AMR][1000 genomes]
rs3753533	0.80[AMR][1000 genomes]
rs3766626	0.85[AMR][1000 genomes]
rs3766628	0.82[AMR][1000 genomes]
rs3820163	0.85[AMR][1000 genomes]
rs4297249	0.82[AMR][1000 genomes]
rs7515519	0.80[AMR][1000 genomes]
rs7526438	0.82[AMR][1000 genomes]
rs7549040	0.82[AMR][1000 genomes]
rs912758	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9727621	0.85[AMR][1000 genomes]
rs9727648	0.86[AMR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12021551	TOR3A	cis	Artery Tibial	GTEx
rs12021551	TOR3A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179052200-179062200	Weak transcription	Small Intestine	intestine
2	chr1:179052400-179053800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:179052400-179053800	Weak transcription	Brain Anterior Caudate	brain
4	chr1:179052400-179053800	Weak transcription	Colonic Mucosa	Colon
5	chr1:179052400-179053800	Weak transcription	Gastric	stomach
6	chr1:179052400-179053800	Weak transcription	Lung	lung
7	chr1:179052400-179053800	Weak transcription	Ovary	ovary
8	chr1:179052400-179053800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:179052400-179054400	Weak transcription	Right Ventricle	heart
10	chr1:179052400-179054600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:179052400-179054800	Weak transcription	Aorta	Aorta
12	chr1:179052400-179054800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:179052400-179054800	Weak transcription	Brain Substantia Nigra	brain
14	chr1:179052400-179054800	Weak transcription	Left Ventricle	heart
15	chr1:179052400-179054800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:179052400-179054800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:179052400-179056000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:179052400-179056000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:179052400-179056200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:179052400-179056400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:179052400-179056600	Weak transcription	Right Atrium	heart
22	chr1:179052400-179056600	Weak transcription	HUVEC	blood vessel
23	chr1:179052400-179058800	Weak transcription	NH-A	brain
24	chr1:179052400-179059000	Weak transcription	Psoas Muscle	Psoas
25	chr1:179052400-179060000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:179052400-179060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:179052400-179060800	Weak transcription	Fetal Lung	lung
28	chr1:179052400-179062600	Weak transcription	Fetal Kidney	kidney
29	chr1:179052600-179053800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:179052600-179053800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:179052600-179053800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:179052600-179053800	Weak transcription	Fetal Stomach	stomach
33	chr1:179052600-179053800	Weak transcription	NHLF	lung
34	chr1:179052600-179054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:179052600-179054000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:179052600-179054400	Weak transcription	Placenta	Placenta
37	chr1:179052600-179054600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:179052600-179054800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:179052600-179054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:179052600-179056000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:179052600-179056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:179052600-179056800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:179052600-179057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:179052600-179058800	Weak transcription	NHDF-Ad	bronchial
45	chr1:179052600-179064200	Weak transcription	Fetal Brain Male	brain
46	chr1:179052800-179053800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:179052800-179053800	Weak transcription	Thymus	Thymus
48	chr1:179052800-179054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:179052800-179054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:179052800-179054800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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