Variant report

Variant	nsv972592
Chromosome Location	chr8:78501448-78506412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10108437	chr8:78502627-78502628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573965899	chr8:78502676-78502677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369835262	chr8:78502698-78502699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7844138	chr8:78502814-78502815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149418186	chr8:78502843-78502844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35406799	chr8:78502960-78502961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184481171	chr8:78502962-78502963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545582972	chr8:78502968-78502969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7826280	chr8:78502981-78502982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188927440	chr8:78503012-78503013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146760031	chr8:78503040-78503041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371721319	chr8:78503041-78503042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386413145	chr8:78503049-78503050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10688758	chr8:78503050-78503051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542697491	chr8:78503054-78503055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560731947	chr8:78503087-78503088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373786626	chr8:78503111-78503112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373565685	chr8:78503174-78503175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs441257	chr8:78503229-78503230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538460770	chr8:78503254-78503255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546601656	chr8:78503260-78503261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193018453	chr8:78503261-78503262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76893043	chr8:78503266-78503267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550392730	chr8:78503271-78503272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568704843	chr8:78503295-78503296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs380777	chr8:78503306-78503307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144789483	chr8:78503316-78503317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs399030	chr8:78503321-78503322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184827159	chr8:78503337-78503338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553717539	chr8:78503345-78503346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs446997	chr8:78503370-78503371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77053954	chr8:78503373-78503374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189719173	chr8:78503406-78503407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180962639	chr8:78503457-78503458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567213316	chr8:78503458-78503459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs416406	chr8:78503529-78503530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148136974	chr8:78503532-78503533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55939308	chr8:78503538-78503539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs365235	chr8:78503574-78503575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183710685	chr8:78503586-78503587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550448174	chr8:78503605-78503606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370484965	chr8:78503642-78503643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543896741	chr8:78503689-78503690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568718755	chr8:78503741-78503742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142501943	chr8:78503773-78503774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549230701	chr8:78503850-78503851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145961952	chr8:78503855-78503856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55954155	chr8:78503856-78503857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565420393	chr8:78503875-78503876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553430498	chr8:78503909-78503910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78502600-78504800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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