Variant report

Variant	nsv519362
Chromosome Location	chr9:18598470-18599029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4433237	chr9:18598470-18598471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184410447	chr9:18598505-18598506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35599040	chr9:18598506-18598507	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373770694	chr9:18598516-18598517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34098829	chr9:18598518-18598519	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565542744	chr9:18598524-18598525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372161420	chr9:18598535-18598536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10963661	chr9:18598560-18598561	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs80026165	chr9:18598610-18598611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554584203	chr9:18598613-18598614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62548416	chr9:18598627-18598628	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs17803363	chr9:18598636-18598637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs150350728	chr9:18598669-18598670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578174885	chr9:18598699-18598700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545531550	chr9:18598710-18598711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554188682	chr9:18598734-18598735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572368509	chr9:18598759-18598760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7862714	chr9:18598768-18598769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561456557	chr9:18598795-18598796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532009544	chr9:18598852-18598853	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543654518	chr9:18598854-18598855	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187603789	chr9:18598871-18598872	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532527514	chr9:18598879-18598880	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547112328	chr9:18598880-18598881	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193135390	chr9:18598917-18598918	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529691471	chr9:18598955-18598956	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573158732	chr9:18598956-18598957	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569900266	chr9:18598979-18598980	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537330494	chr9:18599021-18599022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10810992	chr9:18599029-18599030	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr9:18569800-18601000	Weak transcription	NHLF	lung
2	chr9:18584000-18603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:18588600-18605600	Weak transcription	NH-A	brain
4	chr9:18592600-18605800	Weak transcription	Aorta	Aorta
5	chr9:18594200-18605800	Weak transcription	HSMMtube	muscle
6	chr9:18595200-18599000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:18595400-18602400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:18595800-18604600	Weak transcription	Fetal Stomach	stomach
9	chr9:18596000-18605800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:18597600-18600600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:18598000-18600800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:18598000-18603200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:18598000-18605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:18598200-18598600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:18598200-18598600	Weak transcription	NHDF-Ad	bronchial
16	chr9:18598200-18598800	Weak transcription	Osteobl	bone
17	chr9:18598200-18602000	Weak transcription	HSMM	muscle
18	chr9:18598600-18598800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:18598600-18598800	Enhancers	NHDF-Ad	bronchial
20	chr9:18598800-18599000	Genic enhancers	Osteobl	bone
21	chr9:18598800-18599400	Enhancers	Brain Germinal Matrix	brain
22	chr9:18598800-18600600	Weak transcription	NHDF-Ad	bronchial
23	chr9:18598800-18602200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:18599000-18600200	Weak transcription	Osteobl	bone
25	chr9:18599000-18600800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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