Variant report

Variant	rs1787196
Chromosome Location	chr18:45406749-45406750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
2	chr18:45406363..45407026-chr6:35439781..35440543,2	Hela-S3	cervix:
3	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10432199	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10502890	0.81[AFR][1000 genomes]
rs10853560	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11082638	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11082639	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11874858	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12457664	0.81[AFR][1000 genomes]
rs12458238	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12604337	0.81[EUR][1000 genomes]
rs12605333	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12956483	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12968107	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12968493	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12969725	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13381619	0.90[ASN][1000 genomes]
rs1539871	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1539872	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1573362	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1573363	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1613672	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1631576	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17741998	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1787176	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1787193	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1787194	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1787195	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1787197	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1787198	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1787199	0.84[AFR][1000 genomes]
rs1792653	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1792655	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1792658	0.81[AFR][1000 genomes]
rs1792667	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1792668	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1792669	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792670	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792672	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1792674	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1792675	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792683	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1792687	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1942158	0.82[AFR][1000 genomes]
rs2000708	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2000709	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2012555	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2096932	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2096933	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28548478	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35710478	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3813068	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4939672	0.84[EUR][1000 genomes]
rs4940102	0.86[EUR][1000 genomes]
rs4940109	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4940110	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4940120	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4940127	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57620563	0.80[AFR][1000 genomes]
rs61513611	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62086544	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6507790	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7228393	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7231538	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7232764	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7232893	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7233129	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7236177	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7237544	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7243502	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs729112	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs747952	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs747953	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs765213	0.82[EUR][1000 genomes]
rs8084915	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8095519	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8097580	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8097912	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8097925	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8099127	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8099681	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs948600	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs948601	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs948603	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs948604	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9946556	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9950207	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9955626	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9966637	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9966964	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059186	chr18:45360012-45407405	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1057525	chr18:45368587-45407405	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	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
4	nsv1062089	chr18:45387616-45407754	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv1065234	chr18:45389554-45407966	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1067255	chr18:45394077-45407181	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
9	nsv1064892	chr18:45397130-45407820	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	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
rs1787196	SMAD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
3	chr18:45384200-45421200	Weak transcription	Gastric	stomach
4	chr18:45384200-45423000	Weak transcription	Lung	lung
5	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
6	chr18:45384400-45419600	Weak transcription	K562	blood
7	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
8	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
10	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
11	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
13	chr18:45387000-45407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:45387000-45407200	Weak transcription	Fetal Muscle Leg	muscle
15	chr18:45387000-45408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:45387000-45408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:45387600-45408200	Weak transcription	Fetal Stomach	stomach
18	chr18:45389000-45410200	Weak transcription	Psoas Muscle	Psoas
19	chr18:45390000-45413600	Weak transcription	Fetal Heart	heart
20	chr18:45390400-45408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:45390400-45408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:45390400-45410000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:45390600-45410400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:45390600-45419600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr18:45391000-45418400	Weak transcription	HUVEC	blood vessel
26	chr18:45391200-45416400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:45394600-45414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:45394800-45407800	Weak transcription	Osteobl	bone
29	chr18:45395000-45407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr18:45395200-45407000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:45395400-45407000	Weak transcription	NH-A	brain
32	chr18:45395400-45407000	Weak transcription	NHDF-Ad	bronchial
33	chr18:45395400-45408000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr18:45395400-45420800	Weak transcription	Fetal Brain Female	brain
35	chr18:45395800-45407000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:45395800-45407000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr18:45395800-45407000	Weak transcription	Fetal Kidney	kidney
38	chr18:45395800-45407000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr18:45395800-45407000	Weak transcription	HSMM	muscle
40	chr18:45395800-45407200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr18:45395800-45407600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:45396000-45406800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:45396000-45406800	Weak transcription	Placenta	Placenta
44	chr18:45396000-45406800	Weak transcription	Fetal Thymus	thymus
45	chr18:45396000-45407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:45396000-45418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr18:45396200-45413400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr18:45396600-45406800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
50	chr18:45397200-45408000	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links