Variant report

Variant	nsv465346
Chromosome Location	chr8:3444008-3450317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs986183	chr8:3444008-3444009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528376326	chr8:3444010-3444011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547053229	chr8:3444013-3444014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571632276	chr8:3444029-3444030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538630349	chr8:3444037-3444038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62473892	chr8:3444153-3444154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551060843	chr8:3444173-3444174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4875747	chr8:3444179-3444180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374091180	chr8:3444192-3444193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536492239	chr8:3444195-3444196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151045877	chr8:3444250-3444251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566858223	chr8:3444279-3444280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75454080	chr8:3444296-3444297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376088564	chr8:3444308-3444309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55890168	chr8:3444318-3444319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577570178	chr8:3444326-3444327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575518232	chr8:3444335-3444336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544639514	chr8:3444339-3444340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544608997	chr8:3444352-3444353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575245477	chr8:3444384-3444385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186628325	chr8:3444385-3444386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541155948	chr8:3444389-3444390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140925027	chr8:3444407-3444408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11777462	chr8:3444410-3444411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552209165	chr8:3444415-3444416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574143581	chr8:3444423-3444424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559495190	chr8:3444456-3444457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564990539	chr8:3444459-3444460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532577867	chr8:3444470-3444471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375482507	chr8:3444478-3444479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569359184	chr8:3444501-3444502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368533398	chr8:3444517-3444518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530117231	chr8:3444524-3444525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13249747	chr8:3444527-3444528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141813905	chr8:3444529-3444530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147088961	chr8:3444537-3444538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11777490	chr8:3444542-3444543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537320013	chr8:3444550-3444551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550622735	chr8:3444553-3444554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11778159	chr8:3444601-3444602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111992784	chr8:3444602-3444603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115642598	chr8:3444607-3444608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376796212	chr8:3444654-3444655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554678424	chr8:3444662-3444663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553382526	chr8:3444709-3444710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573080279	chr8:3444711-3444712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572351740	chr8:3444712-3444713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565228474	chr8:3444716-3444717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532280644	chr8:3444722-3444723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13258350	chr8:3444748-3444749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:123)

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
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
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3443600-3445200	Enhancers	Fetal Muscle Leg	muscle

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