Variant report

Variant	rs9966637
Chromosome Location	chr18:45408300-45408301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10432199	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10853560	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11082638	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11082639	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11874858	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12458238	0.83[EUR][1000 genomes]
rs12604337	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12605333	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12956483	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12968107	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12968493	0.84[EUR][1000 genomes]
rs12969725	0.83[EUR][1000 genomes]
rs13381619	0.97[ASN][1000 genomes]
rs1539872	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1573363	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1613672	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1631576	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1787176	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1787193	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1787194	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1787195	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1787196	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1787197	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1787198	0.84[EUR][1000 genomes]
rs1792653	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1792655	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1792667	0.84[EUR][1000 genomes]
rs1792668	0.84[EUR][1000 genomes]
rs1792669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792670	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792672	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792674	0.82[EUR][1000 genomes]
rs1792675	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1792683	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792687	0.83[EUR][1000 genomes]
rs2000708	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2000709	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2012555	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2096932	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2096933	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28548478	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35710478	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3813068	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4939672	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4940102	0.82[EUR][1000 genomes]
rs4940109	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4940110	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4940120	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4940127	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61513611	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62086544	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6507790	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7228393	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7231538	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7232764	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7232893	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7233129	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7236177	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7237544	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7243502	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs729112	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs747952	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs747953	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs765213	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8084915	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8095519	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8097580	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8097912	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8097925	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8099127	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8099681	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs948600	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs948601	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs948603	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs948604	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946556	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9950207	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9955626	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9966964	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057028	chr18:45384301-45410482	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1064124	chr18:45387616-45410760	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1057072	chr18:45395377-45410041	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv960228	chr18:45401994-45411054	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9966637	SMAD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 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	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
5	chr18:45384400-45419600	Weak transcription	K562	blood
6	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
7	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
8	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
9	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
11	chr18:45387000-45408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:45389000-45410200	Weak transcription	Psoas Muscle	Psoas
13	chr18:45390000-45413600	Weak transcription	Fetal Heart	heart
14	chr18:45390400-45408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:45390400-45410000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr18:45390600-45410400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:45390600-45419600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr18:45391000-45418400	Weak transcription	HUVEC	blood vessel
19	chr18:45391200-45416400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:45394600-45414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:45395400-45420800	Weak transcription	Fetal Brain Female	brain
22	chr18:45396000-45418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:45396200-45413400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
25	chr18:45398000-45409200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr18:45398200-45420400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr18:45398400-45414400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr18:45398600-45410200	Weak transcription	Colon Smooth Muscle	Colon
29	chr18:45398600-45410200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr18:45399200-45413400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr18:45399200-45420600	Weak transcription	Pancreas	Pancrea
32	chr18:45399400-45408400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr18:45399600-45411600	Weak transcription	Fetal Intestine Small	intestine
34	chr18:45399600-45413600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr18:45399600-45419000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr18:45400400-45410400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr18:45400400-45432200	Weak transcription	Ovary	ovary
38	chr18:45400600-45408600	Weak transcription	Adipose Nuclei	Adipose
39	chr18:45400600-45410600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:45400600-45424600	Weak transcription	Stomach Mucosa	stomach
41	chr18:45401200-45410400	Weak transcription	Brain Substantia Nigra	brain
42	chr18:45401200-45426000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr18:45401400-45420600	Weak transcription	Brain Anterior Caudate	brain
44	chr18:45401400-45424600	Weak transcription	Brain Hippocampus Middle	brain
45	chr18:45401600-45421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr18:45401600-45423400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:45403000-45411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:45403800-45422200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr18:45404800-45417800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr18:45404800-45418000	Strong transcription	Primary monocytes fromperipheralblood	blood

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