Variant report

Variant	esv275154
Chromosome Location	chr8:3328870-3332236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 244 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73660040	chr8:3328870-3328871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542552340	chr8:3328898-3328899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138950451	chr8:3328909-3328910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189180405	chr8:3328919-3328920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546620502	chr8:3328923-3328924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192900944	chr8:3328945-3328946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142107552	chr8:3328947-3328948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113498575	chr8:3328952-3328953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541573351	chr8:3328953-3328954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74605028	chr8:3328965-3328966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568730957	chr8:3328981-3328982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143998231	chr8:3329004-3329005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536001673	chr8:3329007-3329008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554447612	chr8:3329009-3329010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377671957	chr8:3329015-3329016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555851799	chr8:3329031-3329032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530128280	chr8:3329047-3329048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533834535	chr8:3329050-3329051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374348839	chr8:3329066-3329067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137962433	chr8:3329070-3329071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577145961	chr8:3329077-3329078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575614639	chr8:3329088-3329089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544713819	chr8:3329096-3329097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113536368	chr8:3329102-3329103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370484851	chr8:3329103-3329104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76960063	chr8:3329104-3329105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145192692	chr8:3329113-3329114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558359846	chr8:3329114-3329115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373107975	chr8:3329134-3329135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149468601	chr8:3329135-3329136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542393247	chr8:3329142-3329143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560663948	chr8:3329156-3329157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386721036	chr8:3329164-3329165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199657555	chr8:3329171-3329172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528024788	chr8:3329182-3329183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578261249	chr8:3329184-3329185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201904890	chr8:3329185-3329186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199906727	chr8:3329187-3329188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201072045	chr8:3329188-3329189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546160697	chr8:3329191-3329192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377204108	chr8:3329198-3329199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564919341	chr8:3329202-3329203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531980262	chr8:3329226-3329227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550270418	chr8:3329243-3329244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185455913	chr8:3329252-3329253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111226193	chr8:3329253-3329254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566313292	chr8:3329269-3329270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528094566	chr8:3329275-3329276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148698916	chr8:3329306-3329307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67017355	chr8:3329314-3329315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:122)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3328400-3331200	Weak transcription	Brain Substantia Nigra	brain
2	chr8:3328600-3331200	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:3328800-3331200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:3331200-3331600	Enhancers	Brain Hippocampus Middle	brain
5	chr8:3331400-3331600	Enhancers	Brain Cingulate Gyrus	brain
6	chr8:3331800-3332000	Enhancers	Brain Substantia Nigra	brain

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