Variant report

Variant	nsv824489
Chromosome Location	chr8:3221899-3222556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201295787	chr8:3221901-3221902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78900501	chr8:3221902-3221903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552095549	chr8:3221916-3221917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78054422	chr8:3221921-3221922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531521762	chr8:3221926-3221927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17065934	chr8:3221939-3221940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568106440	chr8:3221953-3221954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80088332	chr8:3221970-3221971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547825792	chr8:3221975-3221976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35986811	chr8:3221982-3221983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539989157	chr8:3221999-3222000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36119823	chr8:3222003-3222004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs367961554	chr8:3222010-3222011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186976673	chr8:3222017-3222018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556135168	chr8:3222025-3222026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372005606	chr8:3222044-3222045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375302179	chr8:3222046-3222047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548013111	chr8:3222054-3222055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541464553	chr8:3222065-3222066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560152098	chr8:3222083-3222084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144794594	chr8:3222098-3222099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562768707	chr8:3222130-3222131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67005112	chr8:3222141-3222142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112907675	chr8:3222148-3222149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549663390	chr8:3222169-3222170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544955297	chr8:3222170-3222171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372000269	chr8:3222200-3222201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529249423	chr8:3222258-3222259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547492529	chr8:3222293-3222294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78975067	chr8:3222310-3222311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140034644	chr8:3222318-3222319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192459371	chr8:3222320-3222321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370082782	chr8:3222337-3222338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185058507	chr8:3222347-3222348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2221340	chr8:3222360-3222361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs80093411	chr8:3222379-3222380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375606824	chr8:3222383-3222384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62503464	chr8:3222385-3222386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs62503465	chr8:3222392-3222393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374944895	chr8:3222404-3222405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572033693	chr8:3222413-3222414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187408776	chr8:3222425-3222426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563887113	chr8:3222431-3222432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143574026	chr8:3222514-3222515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193176445	chr8:3222521-3222522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184563098	chr8:3222528-3222529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529197042	chr8:3222531-3222532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17065935	chr8:3222537-3222538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559474212	chr8:3222548-3222549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Cancer	20164919	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
Ovarian cancer	22355333	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3216400-3227200	Weak transcription	Brain Angular Gyrus	brain
2	chr8:3216400-3231200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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