Variant report

Variant	esv3374820
Chromosome Location	chr8:5968644-5973742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 460 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533186620	chr8:5968644-5968645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550180892	chr8:5968654-5968655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563417840	chr8:5968656-5968657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529390437	chr8:5968671-5968672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537260531	chr8:5968674-5968675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144141299	chr8:5968692-5968693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73660530	chr8:5968720-5968721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535280021	chr8:5968722-5968723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7000078	chr8:5968729-5968730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367655974	chr8:5968740-5968741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570395567	chr8:5968741-5968742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539049100	chr8:5968742-5968743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191153803	chr8:5968750-5968751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181175773	chr8:5968758-5968759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549473534	chr8:5968768-5968769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535584875	chr8:5968779-5968780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555553201	chr8:5968780-5968781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572292696	chr8:5968782-5968783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541283603	chr8:5968791-5968792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564208014	chr8:5968796-5968797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112071582	chr8:5968817-5968818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6986974	chr8:5968831-5968832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563379753	chr8:5968840-5968841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147292958	chr8:5968856-5968857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185892067	chr8:5968860-5968861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148776113	chr8:5968902-5968903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7000306	chr8:5968908-5968909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77629835	chr8:5968909-5968910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73660531	chr8:5968912-5968913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190608621	chr8:5968945-5968946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375090157	chr8:5968947-5968948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141450315	chr8:5968972-5968973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150853704	chr8:5968982-5968983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569670649	chr8:5968986-5968987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139226842	chr8:5968991-5968992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78181672	chr8:5968994-5968995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375277188	chr8:5969004-5969005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565800736	chr8:5969030-5969031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144199475	chr8:5969034-5969035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146558788	chr8:5969036-5969037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577847906	chr8:5969046-5969047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182894738	chr8:5969058-5969059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113558529	chr8:5969073-5969074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571535754	chr8:5969081-5969082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187533317	chr8:5969083-5969084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115908887	chr8:5969088-5969089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191870400	chr8:5969099-5969100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184111552	chr8:5969100-5969101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73512016	chr8:5969117-5969118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs200462274	chr8:5969135-5969136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
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
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5962200-5979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5973000-5973600	Enhancers	Brain Anterior Caudate	brain
3	chr8:5973000-5973800	Enhancers	Brain Hippocampus Middle	brain
4	chr8:5973000-5974000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:5973200-5973600	Enhancers	Brain Substantia Nigra	brain
6	chr8:5973600-5974200	Weak transcription	Brain Anterior Caudate	brain

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