Variant report

Variant	nsv971622
Chromosome Location	chr8:4367165-4371063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 294 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148650382	chr8:4367166-4367167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552801020	chr8:4367175-4367176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567291911	chr8:4367185-4367186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536549853	chr8:4367208-4367209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75065569	chr8:4367210-4367211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181763656	chr8:4367226-4367227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145542410	chr8:4367234-4367235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73496671	chr8:4367236-4367237	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542901271	chr8:4367240-4367241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556396247	chr8:4367252-4367253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561573709	chr8:4367281-4367282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528679836	chr8:4367291-4367292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540782268	chr8:4367342-4367343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147708344	chr8:4367358-4367359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532626577	chr8:4367359-4367360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557210430	chr8:4367370-4367371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551025553	chr8:4367378-4367379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562855701	chr8:4367407-4367408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530867237	chr8:4367443-4367444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549004781	chr8:4367449-4367450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567506896	chr8:4367470-4367471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140922505	chr8:4367477-4367478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144896359	chr8:4367485-4367486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571281783	chr8:4367486-4367487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538330707	chr8:4367492-4367493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556577046	chr8:4367535-4367536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186119956	chr8:4367536-4367537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577159772	chr8:4367540-4367541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554971360	chr8:4367568-4367569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573450906	chr8:4367616-4367617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549053756	chr8:4367618-4367619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565458104	chr8:4367621-4367622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188926756	chr8:4367624-4367625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557596430	chr8:4367631-4367632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77927116	chr8:4367637-4367638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560769626	chr8:4367649-4367650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181341315	chr8:4367653-4367654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368320763	chr8:4367679-4367680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530122412	chr8:4367682-4367683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151335507	chr8:4367688-4367689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185804463	chr8:4367689-4367690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528365745	chr8:4367692-4367693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546511797	chr8:4367700-4367701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571098961	chr8:4367703-4367704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112636044	chr8:4367710-4367711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550262351	chr8:4367715-4367716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553753618	chr8:4367738-4367739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35542577	chr8:4367771-4367772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140435888	chr8:4367773-4367774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572447244	chr8:4367836-4367837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4366400-4369000	Enhancers	Fetal Heart	heart
2	chr8:4367000-4367200	Enhancers	Right Atrium	heart
3	chr8:4367200-4374000	Weak transcription	Right Atrium	heart
4	chr8:4369000-4369400	Enhancers	Fetal Lung	lung
5	chr8:4369000-4369600	Flanking Active TSS	Fetal Heart	heart
6	chr8:4369400-4374600	Weak transcription	Fetal Lung	lung
7	chr8:4369600-4370600	Active TSS	Fetal Heart	heart
8	chr8:4370600-4370800	Weak transcription	Fetal Heart	heart
9	chr8:4370800-4375600	Enhancers	Fetal Heart	heart

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