Variant report

Variant	nsv824490
Chromosome Location	chr8:3246000-3247437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141184316	chr8:3246027-3246028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs5026894	chr8:3246053-3246054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187982137	chr8:3246078-3246079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192471795	chr8:3246082-3246083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5026895	chr8:3246096-3246097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538589352	chr8:3246100-3246101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370990585	chr8:3246105-3246106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75272032	chr8:3246108-3246109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569261451	chr8:3246109-3246110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536271782	chr8:3246115-3246116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377293397	chr8:3246125-3246126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555012807	chr8:3246146-3246147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573266272	chr8:3246168-3246169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184978671	chr8:3246191-3246192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5026896	chr8:3246201-3246202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542242230	chr8:3246205-3246206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5026897	chr8:3246232-3246233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs5026898	chr8:3246244-3246245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563062800	chr8:3246255-3246256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75222333	chr8:3246257-3246258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5026899	chr8:3246275-3246276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560994312	chr8:3246291-3246292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528221277	chr8:3246292-3246293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546382235	chr8:3246303-3246304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564774154	chr8:3246321-3246322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145256436	chr8:3246336-3246337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137858810	chr8:3246337-3246338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142713231	chr8:3246339-3246340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372976856	chr8:3246352-3246353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187423843	chr8:3246362-3246363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12545457	chr8:3246374-3246375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566966972	chr8:3246387-3246388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538341033	chr8:3246419-3246420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67249412	chr8:3246438-3246439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74948832	chr8:3246440-3246441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369817833	chr8:3246446-3246447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534328886	chr8:3246452-3246453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533519788	chr8:3246474-3246475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146028824	chr8:3246482-3246483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5023366	chr8:3246499-3246500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538458802	chr8:3246524-3246525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556776769	chr8:3246526-3246527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139588288	chr8:3246529-3246530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10100584	chr8:3246555-3246556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149291995	chr8:3246557-3246558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572590664	chr8:3246566-3246567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201151888	chr8:3246569-3246570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192176840	chr8:3246575-3246576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369523276	chr8:3246598-3246599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373248611	chr8:3246602-3246603	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	chr8:3239600-3253600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:3243400-3256400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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