Variant report

Variant	nsv818584
Chromosome Location	chr8:4600449-4602387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs1673235	chr8:4600449-4600450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191011304	chr8:4600466-4600467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530905805	chr8:4600475-4600476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371933877	chr8:4600488-4600489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542757094	chr8:4600503-4600504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575534520	chr8:4600504-4600505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561391899	chr8:4600528-4600529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7836641	chr8:4600538-4600539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544485422	chr8:4600541-4600542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182432476	chr8:4600547-4600548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532889014	chr8:4600553-4600554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551219399	chr8:4600554-4600555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6993907	chr8:4600565-4600566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185289486	chr8:4600576-4600577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547867706	chr8:4600581-4600582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191133559	chr8:4600582-4600583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149746120	chr8:4600594-4600595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145438070	chr8:4600596-4600597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577666442	chr8:4600601-4600602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576596441	chr8:4600635-4600636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537771178	chr8:4600642-4600643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183317193	chr8:4600647-4600648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62484603	chr8:4600657-4600658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543046610	chr8:4600676-4600677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527976192	chr8:4600694-4600695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559933771	chr8:4600717-4600718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7007553	chr8:4600727-4600728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369844003	chr8:4600731-4600732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1676938	chr8:4600754-4600755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540714665	chr8:4600787-4600788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371695245	chr8:4600790-4600791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529599860	chr8:4600816-4600817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199676188	chr8:4600828-4600829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549381149	chr8:4600858-4600859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569382903	chr8:4600860-4600861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563062416	chr8:4600884-4600885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111244868	chr8:4600887-4600888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551001965	chr8:4600898-4600899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563236673	chr8:4600904-4600905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530324548	chr8:4600909-4600910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74664460	chr8:4600921-4600922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375873071	chr8:4600925-4600926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143482231	chr8:4600946-4600947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188636748	chr8:4600955-4600956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193175308	chr8:4600970-4600971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114568388	chr8:4600975-4600976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538002987	chr8:4600977-4600978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146462288	chr8:4601011-4601012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576704943	chr8:4601017-4601018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574720398	chr8:4601026-4601027	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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