Variant report

Variant	nsv519649
Chromosome Location	chr8:3348684-3349599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1532583	chr8:3348684-3348685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10110046	chr8:3348691-3348692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6985022	chr8:3348698-3348699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575695405	chr8:3348703-3348704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs999652	chr8:3348714-3348715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563792549	chr8:3348722-3348723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555094124	chr8:3348725-3348726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573605687	chr8:3348730-3348731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541015636	chr8:3348750-3348751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559578699	chr8:3348752-3348753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577987154	chr8:3348765-3348766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142841363	chr8:3348769-3348770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543768723	chr8:3348773-3348774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117625319	chr8:3348777-3348778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531368614	chr8:3348781-3348782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10107364	chr8:3348797-3348798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147399905	chr8:3348801-3348802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528691902	chr8:3348813-3348814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76737577	chr8:3348816-3348817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571892893	chr8:3348832-3348833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188857524	chr8:3348850-3348851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1530615	chr8:3348853-3348854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568541372	chr8:3348879-3348880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148753600	chr8:3348889-3348890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536706104	chr8:3348913-3348914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192584464	chr8:3348924-3348925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573530808	chr8:3348927-3348928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113716806	chr8:3348928-3348929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534802815	chr8:3348942-3348943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142357635	chr8:3348950-3348951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577840864	chr8:3348951-3348952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545076989	chr8:3348976-3348977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563634071	chr8:3348986-3348987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575702071	chr8:3348990-3348991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73174899	chr8:3349008-3349009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561346034	chr8:3349012-3349013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151266195	chr8:3349022-3349023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184213463	chr8:3349029-3349030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187320865	chr8:3349032-3349033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192221572	chr8:3349075-3349076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184881560	chr8:3349100-3349101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6985693	chr8:3349112-3349113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189766659	chr8:3349123-3349124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180714656	chr8:3349125-3349126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374821306	chr8:3349128-3349129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1532582	chr8:3349137-3349138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184363998	chr8:3349139-3349140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540439077	chr8:3349146-3349147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571460677	chr8:3349170-3349171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538965079	chr8:3349171-3349172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3347000-3361000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:3347800-3349000	Weak transcription	Stomach Mucosa	stomach
3	chr8:3349000-3351200	Enhancers	Stomach Mucosa	stomach

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