Variant report

Variant	nsv967598
Chromosome Location	chr8:63194696-63195696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563725233	chr8:63194699-63194700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574733229	chr8:63194710-63194711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575716541	chr8:63194737-63194738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545916902	chr8:63194751-63194752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564499989	chr8:63194887-63194888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532330412	chr8:63194893-63194894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112160893	chr8:63194901-63194902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12679323	chr8:63194915-63194916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138419020	chr8:63194917-63194918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547887331	chr8:63195014-63195015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569372055	chr8:63195018-63195019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375800547	chr8:63195056-63195057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536740773	chr8:63195060-63195061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551932313	chr8:63195064-63195065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570405925	chr8:63195087-63195088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111721915	chr8:63195088-63195089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540241484	chr8:63195092-63195093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145051572	chr8:63195104-63195105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138905681	chr8:63195179-63195180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181466838	chr8:63195191-63195192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575854290	chr8:63195201-63195202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546254708	chr8:63195211-63195212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557898837	chr8:63195213-63195214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372623743	chr8:63195266-63195267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573160347	chr8:63195304-63195305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184244159	chr8:63195308-63195309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370195844	chr8:63195322-63195323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371899377	chr8:63195369-63195370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370621739	chr8:63195370-63195371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189392612	chr8:63195454-63195455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529848866	chr8:63195471-63195472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377118312	chr8:63195481-63195482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532668747	chr8:63195515-63195516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563139765	chr8:63195551-63195552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530549155	chr8:63195587-63195588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552215080	chr8:63195638-63195639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141406132	chr8:63195645-63195646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1905296	chr8:63195681-63195682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528041798	chr8:63195682-63195683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63191000-63209200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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