Variant report

Variant	esv3399230
Chromosome Location	chr8:3207439-3207948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13250955	chr8:3207476-3207477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187498259	chr8:3207479-3207480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117765479	chr8:3207502-3207503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200786558	chr8:3207516-3207517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115119892	chr8:3207517-3207518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568084558	chr8:3207541-3207542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10102548	chr8:3207545-3207546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535506995	chr8:3207548-3207549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28874944	chr8:3207551-3207552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201410033	chr8:3207556-3207557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572072897	chr8:3207566-3207567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191476848	chr8:3207587-3207588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10102561	chr8:3207589-3207590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149999514	chr8:3207592-3207593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528169385	chr8:3207595-3207596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181963419	chr8:3207597-3207598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565521271	chr8:3207600-3207601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558463700	chr8:3207610-3207611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186200581	chr8:3207611-3207612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573714578	chr8:3207620-3207621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534536015	chr8:3207634-3207635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548021881	chr8:3207639-3207640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36175069	chr8:3207645-3207646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541062967	chr8:3207658-3207659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67058201	chr8:3207674-3207675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs66995410	chr8:3207677-3207678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373521388	chr8:3207707-3207708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145196890	chr8:3207711-3207712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200876178	chr8:3207715-3207716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533312287	chr8:3207716-3207717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202004304	chr8:3207719-3207720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551942627	chr8:3207722-3207723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113296633	chr8:3207730-3207731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373256655	chr8:3207745-3207746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556996675	chr8:3207768-3207769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570693734	chr8:3207770-3207771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4875662	chr8:3207774-3207775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186708610	chr8:3207783-3207784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549713198	chr8:3207784-3207785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375655167	chr8:3207792-3207793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553288093	chr8:3207815-3207816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200537614	chr8:3207816-3207817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535417533	chr8:3207823-3207824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142342202	chr8:3207827-3207828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547459993	chr8:3207831-3207832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565755565	chr8:3207854-3207855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376535517	chr8:3207860-3207861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369861941	chr8:3207861-3207862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557890636	chr8:3207919-3207920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576181597	chr8:3207923-3207924	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3188000-3215600	Weak transcription	Brain Inferior Temporal Lobe	brain

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