Variant report

Variant	nsv609858
Chromosome Location	chr8:4447059-4465101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186705248	chr8:4462216-4462217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191115068	chr8:4462229-4462230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535663378	chr8:4462231-4462232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554392882	chr8:4462232-4462233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573184277	chr8:4462247-4462248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113352976	chr8:4462261-4462262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113869484	chr8:4462263-4462264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28525240	chr8:4462281-4462282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576130142	chr8:4462290-4462291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561943413	chr8:4462302-4462303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200736200	chr8:4462303-4462304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193193032	chr8:4462315-4462316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185091317	chr8:4462325-4462326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573718943	chr8:4462329-4462330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540862338	chr8:4462331-4462332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373871563	chr8:4462345-4462346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150186483	chr8:4462351-4462352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114382695	chr8:4462354-4462355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541083018	chr8:4462363-4462364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2617100	chr8:4462390-4462391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138738534	chr8:4462391-4462392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548000338	chr8:4464027-4464028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73659146	chr8:4464031-4464032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs193123879	chr8:4464032-4464033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552440710	chr8:4464046-4464047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570755424	chr8:4464058-4464059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538141172	chr8:4464069-4464070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557357475	chr8:4464073-4464074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553054885	chr8:4464081-4464082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569179332	chr8:4464096-4464097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57793308	chr8:4464105-4464106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185560242	chr8:4464109-4464110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554749131	chr8:4464115-4464116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188424425	chr8:4464117-4464118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73659147	chr8:4464119-4464120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558727646	chr8:4464129-4464130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193018333	chr8:4464140-4464141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74676412	chr8:4464142-4464143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544522534	chr8:4464143-4464144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561868358	chr8:4464144-4464145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2725014	chr8:4464167-4464168	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs541845490	chr8:4464171-4464172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142470978	chr8:4464172-4464173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151246852	chr8:4464194-4464195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544125794	chr8:4464197-4464198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184338804	chr8:4464207-4464208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2617102	chr8:4464209-4464210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs140465849	chr8:4464210-4464211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150404994	chr8:4464223-4464224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2617103	chr8:4464244-4464245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4462200-4462400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:4464000-4464400	Enhancers	Cortex derived primary cultured neurospheres	brain

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