Variant report

Variant	rs1792667
Chromosome Location	chr18:45412071-45412072
allele	C/T
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	FOS	chr18:45411872-45412182	HUVEC	blood vessel:	n/a	chr18:45412060-45412071

Variant related genes	Relation type
ENSG00000269365	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10445485	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10502890	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10853560	0.84[EUR][1000 genomes]
rs11082638	0.84[EUR][1000 genomes]
rs11082641	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11659463	0.82[AFR][1000 genomes]
rs12457664	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12458238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12968107	0.83[EUR][1000 genomes]
rs12968493	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12969725	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1539872	0.83[EUR][1000 genomes]
rs1573362	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1573363	0.82[EUR][1000 genomes]
rs1613672	0.81[EUR][1000 genomes]
rs1631576	0.83[EUR][1000 genomes]
rs17741998	0.83[EUR][1000 genomes]
rs1787176	0.81[EUR][1000 genomes]
rs1787186	0.81[AMR][1000 genomes]
rs1787196	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1787197	0.83[EUR][1000 genomes]
rs1787198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1787199	0.99[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792669	0.84[EUR][1000 genomes]
rs1792670	0.84[EUR][1000 genomes]
rs1792674	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1792675	0.81[EUR][1000 genomes]
rs1792687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1942158	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2012555	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2096932	0.83[EUR][1000 genomes]
rs28548478	0.80[EUR][1000 genomes]
rs3813068	0.83[EUR][1000 genomes]
rs4940102	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4940120	0.81[EUR][1000 genomes]
rs57620563	0.95[AFR][1000 genomes]
rs61513611	0.85[EUR][1000 genomes]
rs7231538	0.84[EUR][1000 genomes]
rs7232764	0.81[EUR][1000 genomes]
rs7232893	0.83[EUR][1000 genomes]
rs7233129	0.83[EUR][1000 genomes]
rs7236177	0.83[EUR][1000 genomes]
rs7237544	0.83[EUR][1000 genomes]
rs729112	0.83[EUR][1000 genomes]
rs747952	0.83[EUR][1000 genomes]
rs747953	0.83[EUR][1000 genomes]
rs8084915	0.83[EUR][1000 genomes]
rs8097580	0.83[EUR][1000 genomes]
rs8097912	0.83[EUR][1000 genomes]
rs8099127	0.83[EUR][1000 genomes]
rs8099681	0.81[EUR][1000 genomes]
rs948600	0.81[EUR][1000 genomes]
rs948602	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs948603	0.83[EUR][1000 genomes]
rs9950207	0.83[EUR][1000 genomes]
rs9955626	0.87[EUR][1000 genomes]
rs9966637	0.84[EUR][1000 genomes]
rs9966964	0.80[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1792667	SMAD2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
2	chr18:45384200-45421200	Weak transcription	Gastric	stomach
3	chr18:45384200-45423000	Weak transcription	Lung	lung
4	chr18:45384400-45419600	Weak transcription	K562	blood
5	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
6	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
7	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
8	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
10	chr18:45390000-45413600	Weak transcription	Fetal Heart	heart
11	chr18:45390600-45419600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:45391000-45418400	Weak transcription	HUVEC	blood vessel
13	chr18:45391200-45416400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:45394600-45414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:45395400-45420800	Weak transcription	Fetal Brain Female	brain
16	chr18:45396000-45418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr18:45396200-45413400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
19	chr18:45398200-45420400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:45398400-45414400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr18:45399200-45413400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:45399200-45420600	Weak transcription	Pancreas	Pancrea
23	chr18:45399600-45413600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr18:45399600-45419000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr18:45400400-45432200	Weak transcription	Ovary	ovary
26	chr18:45400600-45424600	Weak transcription	Stomach Mucosa	stomach
27	chr18:45401200-45426000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:45401400-45420600	Weak transcription	Brain Anterior Caudate	brain
29	chr18:45401400-45424600	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:45401600-45421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr18:45401600-45423400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:45403800-45422200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr18:45404800-45417800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:45404800-45418000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr18:45405200-45423400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr18:45406800-45414000	Strong transcription	Fetal Thymus	thymus
37	chr18:45407400-45420600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:45407600-45413400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr18:45407600-45421000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr18:45407800-45412600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr18:45407800-45420000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr18:45408400-45414000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr18:45408400-45415400	Weak transcription	Fetal Lung	lung
44	chr18:45408800-45413000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:45408800-45413400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:45408800-45420400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr18:45408800-45420400	Weak transcription	Left Ventricle	heart
48	chr18:45408800-45423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:45409000-45417400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr18:45409000-45420400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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