Variant report

Variant	nsv613296
Chromosome Location	chr9:8640921-8641791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143757960	chr9:8640928-8640929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151078660	chr9:8640961-8640962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376603702	chr9:8640966-8640967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369079292	chr9:8641013-8641014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531380276	chr9:8641071-8641072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551606685	chr9:8641103-8641104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549211186	chr9:8641108-8641109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183814797	chr9:8641113-8641114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547772181	chr9:8641114-8641115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142640662	chr9:8641126-8641127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539916604	chr9:8641128-8641129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188406239	chr9:8641191-8641192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35286414	chr9:8641207-8641208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193014328	chr9:8641226-8641227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146895968	chr9:8641262-8641263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10114687	chr9:8641304-8641305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs199786456	chr9:8641307-8641308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184859627	chr9:8641357-8641358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537607686	chr9:8641423-8641424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576653534	chr9:8641519-8641520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113071195	chr9:8641577-8641578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562388219	chr9:8641600-8641601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138674591	chr9:8641630-8641631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574101735	chr9:8641651-8641652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570521650	chr9:8641665-8641666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72698277	chr9:8641763-8641764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559891402	chr9:8641771-8641772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142688074	chr9:8641775-8641776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
2	chr9:8622000-8648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:8623400-8647800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:8628400-8643600	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:8628800-8644000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:8628800-8644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:8629800-8651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:8630200-8652400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:8631000-8649800	Weak transcription	Ovary	ovary
10	chr9:8633200-8644200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:8634000-8641000	Weak transcription	Fetal Lung	lung
12	chr9:8634200-8643800	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:8634600-8648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:8636600-8643400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:8638000-8648000	Weak transcription	Fetal Brain Male	brain
16	chr9:8640800-8641800	Enhancers	Fetal Heart	heart
17	chr9:8641000-8641200	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links