Variant report

Variant	nsv819566
Chromosome Location	chr8:4601919-4604237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558120302	chr8:4601923-4601924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575996601	chr8:4601930-4601931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543098420	chr8:4601935-4601936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545207011	chr8:4601940-4601941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561704012	chr8:4601968-4601969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111961787	chr8:4601973-4601974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73175353	chr8:4601974-4601975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149356652	chr8:4601982-4601983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559612374	chr8:4601989-4601990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2168666	chr8:4602004-4602005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551665706	chr8:4602016-4602017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183850866	chr8:4602037-4602038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1471418	chr8:4602041-4602042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11776625	chr8:4602067-4602068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147478124	chr8:4602074-4602075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188291922	chr8:4602083-4602084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368238300	chr8:4602112-4602113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547799149	chr8:4602116-4602117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190241669	chr8:4602126-4602127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182591437	chr8:4602132-4602133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186911609	chr8:4602151-4602152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567618434	chr8:4602171-4602172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561209325	chr8:4602200-4602201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537735223	chr8:4602206-4602207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555084524	chr8:4602217-4602218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191299877	chr8:4602228-4602229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184145695	chr8:4602237-4602238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559452379	chr8:4602257-4602258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530348780	chr8:4602265-4602266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544919686	chr8:4602281-4602282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189214003	chr8:4602294-4602295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530744705	chr8:4602307-4602308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542870887	chr8:4602327-4602328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557132056	chr8:4602331-4602332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193091428	chr8:4602349-4602350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185386546	chr8:4602361-4602362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542991350	chr8:4602385-4602386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7830723	chr8:4602387-4602388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs570161773	chr8:4602394-4602395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565875338	chr8:4602402-4602403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115906366	chr8:4602410-4602411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79423187	chr8:4602428-4602429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189000955	chr8:4602445-4602446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140020801	chr8:4602464-4602465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181492539	chr8:4602534-4602535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143624461	chr8:4602552-4602553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369793803	chr8:4602568-4602569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534646685	chr8:4602569-4602570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553003611	chr8:4602579-4602580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577839120	chr8:4602593-4602594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4593800-4616600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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