Variant report

Variant	esv2430566
Chromosome Location	chr9:18574479-18575902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541485348	chr9:18574502-18574503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183684122	chr9:18574509-18574510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563252040	chr9:18574573-18574574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202116257	chr9:18574587-18574588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200448992	chr9:18574593-18574594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527628332	chr9:18574594-18574595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74923306	chr9:18574595-18574596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386733304	chr9:18574600-18574601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72234611	chr9:18574605-18574606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71494963	chr9:18574608-18574609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59626243	chr9:18574615-18574616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71333046	chr9:18574616-18574617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141977618	chr9:18574680-18574681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3739569	chr9:18574694-18574695	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564152978	chr9:18574732-18574733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541118680	chr9:18574741-18574742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528278245	chr9:18574747-18574748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188657942	chr9:18574769-18574770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374225223	chr9:18574801-18574802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10756976	chr9:18574806-18574807	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs530170077	chr9:18574820-18574821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73644249	chr9:18574839-18574840	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192559966	chr9:18574869-18574870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537390602	chr9:18574887-18574888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182236818	chr9:18574888-18574889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17228625	chr9:18574893-18574894	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534905933	chr9:18574900-18574901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113418875	chr9:18574934-18574935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10756977	chr9:18574941-18574942	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34680131	chr9:18574944-18574945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368768272	chr9:18574953-18574954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373145947	chr9:18575020-18575021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10756978	chr9:18575108-18575109	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535522359	chr9:18575117-18575118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62548410	chr9:18575119-18575120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76789501	chr9:18575127-18575128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111387337	chr9:18575131-18575132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564386362	chr9:18575180-18575181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186898053	chr9:18575242-18575243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540430671	chr9:18575249-18575250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191771626	chr9:18575353-18575354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116143859	chr9:18575362-18575363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534967653	chr9:18575363-18575364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564139431	chr9:18575401-18575402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1891042	chr9:18575425-18575426	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552257059	chr9:18575493-18575494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540438820	chr9:18575509-18575510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546639820	chr9:18575516-18575517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570833839	chr9:18575518-18575519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534942050	chr9:18575526-18575527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18564400-18591800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:18566800-18579600	Weak transcription	HSMMtube	muscle
3	chr9:18567000-18579600	Weak transcription	HUVEC	blood vessel
4	chr9:18567800-18578000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:18569600-18575600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:18569600-18580200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:18569800-18601000	Weak transcription	NHLF	lung
8	chr9:18570200-18583200	Weak transcription	Fetal Stomach	stomach
9	chr9:18570200-18591800	Weak transcription	Aorta	Aorta
10	chr9:18571000-18575400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:18571800-18579200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:18573200-18579000	Strong transcription	HSMM	muscle
13	chr9:18573800-18575400	Strong transcription	NH-A	brain
14	chr9:18574000-18574600	Strong transcription	Osteobl	bone
15	chr9:18574000-18575000	Strong transcription	NHDF-Ad	bronchial
16	chr9:18574000-18575200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr9:18574400-18581600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:18574600-18576200	Weak transcription	Osteobl	bone
19	chr9:18575000-18581000	Weak transcription	NHDF-Ad	bronchial
20	chr9:18575200-18575600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:18575400-18576000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:18575400-18576400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:18575400-18581600	Weak transcription	NH-A	brain
24	chr9:18575600-18576000	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr9:18575600-18576200	Enhancers	Pancreatic Islets	Pancreatic Islet

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