Variant report

Variant	esv3349094
Chromosome Location	chr8:3848821-3849385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574770902	chr8:3848829-3848830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs940154	chr8:3848850-3848851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553741029	chr8:3848851-3848852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185948533	chr8:3848852-3848853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146639619	chr8:3848859-3848860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141189714	chr8:3848864-3848865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542452973	chr8:3848876-3848877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143596618	chr8:3848895-3848896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146805149	chr8:3848898-3848899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531746353	chr8:3848902-3848903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148953407	chr8:3848906-3848907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562347305	chr8:3848907-3848908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544372402	chr8:3848911-3848912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562586144	chr8:3848913-3848914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143736486	chr8:3848932-3848933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148028524	chr8:3848933-3848934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190891327	chr8:3848938-3848939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73658522	chr8:3848940-3848941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138052646	chr8:3848949-3848950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572884202	chr8:3848950-3848951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183357456	chr8:3848952-3848953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570515378	chr8:3848973-3848974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537573223	chr8:3848984-3848985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531666715	chr8:3848990-3848991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371418712	chr8:3848991-3848992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550347314	chr8:3848993-3848994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140848540	chr8:3849012-3849013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551869244	chr8:3849013-3849014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535712331	chr8:3849018-3849019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554065361	chr8:3849023-3849024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541892843	chr8:3849046-3849047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572073950	chr8:3849067-3849068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146086383	chr8:3849068-3849069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1523256	chr8:3849070-3849071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138931304	chr8:3849071-3849072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576476732	chr8:3849093-3849094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543590571	chr8:3849094-3849095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562630490	chr8:3849100-3849101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527716658	chr8:3849103-3849104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574685434	chr8:3849104-3849105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551312238	chr8:3849106-3849107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142674152	chr8:3849119-3849120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs940153	chr8:3849139-3849140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs2688376	chr8:3849147-3849148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547158421	chr8:3849149-3849150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186561710	chr8:3849152-3849153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79738037	chr8:3849162-3849163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563972904	chr8:3849174-3849175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531425803	chr8:3849183-3849184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549621071	chr8:3849193-3849194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3845400-3852000	Weak transcription	Fetal Heart	heart
2	chr8:3846200-3857400	Weak transcription	Pancreas	Pancrea
3	chr8:3847400-3850000	Weak transcription	HepG2	liver

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