Variant report

Variant	rs2793791
Chromosome Location	chr1:179132708-179132709
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	chr1:179126205..179128954-chr1:179131853..179134675,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10913691	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12031894	1.00[AFR][1000 genomes]
rs12404921	1.00[AFR][1000 genomes]
rs12408349	1.00[AFR][1000 genomes]
rs1325194	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17362081	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2050922	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2066162	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636266	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2636289	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2636290	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2793804	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2793805	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2793807	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2793808	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2816180	0.87[AFR][1000 genomes]
rs380951	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3818433	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs425858	0.85[EUR][1000 genomes]
rs4478776	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4651014	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58948941	0.86[AFR][1000 genomes]
rs59777301	1.00[AFR][1000 genomes]
rs61821690	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61824368	1.00[AFR][1000 genomes]
rs6675772	1.00[AFR][1000 genomes]
rs931441	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2793791	TOR3A	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179112400-179133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:179112400-179139000	Weak transcription	K562	blood
3	chr1:179113200-179133000	Weak transcription	Hela-S3	cervix
4	chr1:179116200-179133000	Weak transcription	NHDF-Ad	bronchial
5	chr1:179116400-179133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:179117800-179133000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:179117800-179186000	Weak transcription	Fetal Stomach	stomach
8	chr1:179119000-179135200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:179119600-179133000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:179120200-179133800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:179121200-179136200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:179121800-179135800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:179121800-179138400	Weak transcription	Aorta	Aorta
14	chr1:179122000-179135000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:179122000-179139000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:179122000-179189400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:179122400-179153000	Weak transcription	Primary T cells from cord blood	blood
18	chr1:179122800-179139000	Weak transcription	Lung	lung
19	chr1:179122800-179141600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:179123000-179133000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:179123400-179133000	Weak transcription	A549	lung
22	chr1:179123400-179136200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:179124200-179139000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:179126000-179133000	Weak transcription	HepG2	liver
25	chr1:179127400-179139200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:179128600-179133400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:179128800-179133000	Weak transcription	HSMMtube	muscle
28	chr1:179130600-179136000	Weak transcription	GM12878-XiMat	blood
29	chr1:179132000-179133000	Enhancers	HSMM	muscle
30	chr1:179132000-179135000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:179132200-179134000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:179132200-179134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:179132200-179134800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:179132200-179134800	Enhancers	HMEC	breast
35	chr1:179132400-179133800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:179132400-179135200	Enhancers	NHEK	skin
37	chr1:179132600-179133800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:179132600-179136000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:179132600-179139000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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