Variant report

Variant	nsv824870
Chromosome Location	chr9:18045760-18048729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557267010	chr9:18045768-18045769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575412293	chr9:18045772-18045773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539667115	chr9:18045776-18045777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193197956	chr9:18045792-18045793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572907104	chr9:18045794-18045795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539800204	chr9:18045795-18045796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185504999	chr9:18045816-18045817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147018220	chr9:18045819-18045820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138111978	chr9:18045840-18045841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149521091	chr9:18045867-18045868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551018479	chr9:18045883-18045884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533122885	chr9:18045892-18045893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551609835	chr9:18045903-18045904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1854579	chr9:18045929-18045930	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189584647	chr9:18045936-18045937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546818488	chr9:18045937-18045938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568427357	chr9:18045964-18045965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144048729	chr9:18046007-18046008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60056897	chr9:18046031-18046032	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181993758	chr9:18046033-18046034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10963409	chr9:18046046-18046047	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10963410	chr9:18046047-18046048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373980630	chr9:18046055-18046056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61513745	chr9:18046061-18046062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533879429	chr9:18046102-18046103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555196905	chr9:18046115-18046116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573551021	chr9:18046122-18046123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544238678	chr9:18046131-18046132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75824105	chr9:18046157-18046158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78522676	chr9:18046167-18046168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181253627	chr9:18046171-18046172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560285709	chr9:18046185-18046186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114182376	chr9:18046202-18046203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73645703	chr9:18046206-18046207	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10963411	chr9:18046233-18046234	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529217412	chr9:18046234-18046235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550573303	chr9:18046235-18046236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569163459	chr9:18046249-18046250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141215107	chr9:18046318-18046319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116929219	chr9:18046319-18046320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567031404	chr9:18046329-18046330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534204997	chr9:18046415-18046416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10963412	chr9:18046419-18046420	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs146172392	chr9:18046449-18046450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59810470	chr9:18046478-18046479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537793277	chr9:18046480-18046481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186725958	chr9:18046534-18046535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139128632	chr9:18046581-18046582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545272585	chr9:18046633-18046634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553810100	chr9:18046634-18046635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18038400-18061600	Weak transcription	Aorta	Aorta
2	chr9:18044600-18046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:18045200-18046400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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