Variant report

Variant	esv1845121
Chromosome Location	chr8:3178349-3182369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 321 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147972878	chr8:3178600-3178601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565007834	chr8:3178601-3178602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547741706	chr8:3178618-3178619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550718234	chr8:3178620-3178621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368389508	chr8:3178636-3178637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111922438	chr8:3178637-3178638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79085750	chr8:3178645-3178646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536517040	chr8:3178652-3178653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567077593	chr8:3178654-3178655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534592858	chr8:3178671-3178672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554963308	chr8:3178674-3178675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556601375	chr8:3178682-3178683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140507752	chr8:3178702-3178703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9314485	chr8:3178721-3178722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539165607	chr8:3178737-3178738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557151016	chr8:3178740-3178741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575508135	chr8:3178744-3178745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542486616	chr8:3178764-3178765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75009550	chr8:3178767-3178768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573069824	chr8:3178790-3178791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546493981	chr8:3178857-3178858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541251324	chr8:3178863-3178864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144401918	chr8:3178864-3178865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147282181	chr8:3178884-3178885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140795582	chr8:3178887-3178888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544293006	chr8:3178888-3178889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554884654	chr8:3178908-3178909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530290262	chr8:3178910-3178911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548531215	chr8:3178913-3178914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117655253	chr8:3178922-3178923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191551685	chr8:3178938-3178939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574708190	chr8:3178969-3178970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201606384	chr8:3178985-3178986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149791765	chr8:3178998-3178999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114413927	chr8:3179018-3179019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562548339	chr8:3179037-3179038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538685479	chr8:3179051-3179052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17079945	chr8:3179056-3179057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184765098	chr8:3179057-3179058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111412475	chr8:3179066-3179067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77786817	chr8:3179070-3179071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115932866	chr8:3179079-3179080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576817474	chr8:3179084-3179085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533855847	chr8:3179091-3179092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9644338	chr8:3179093-3179094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547628406	chr8:3179110-3179111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79792793	chr8:3179115-3179116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544225264	chr8:3179124-3179125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145717870	chr8:3179141-3179142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1910374	chr8:3179190-3179191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3178600-3179200	Enhancers	Fetal Brain Male	brain
2	chr8:3179200-3180200	Weak transcription	Fetal Brain Male	brain
3	chr8:3180000-3180400	Enhancers	Lung	lung
4	chr8:3180000-3182000	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:3180200-3180400	Enhancers	Fetal Brain Male	brain

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