Variant report

Variant	esv3480272
Chromosome Location	chr8:3367494-3369390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545052992	chr8:3367514-3367515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116259023	chr8:3367519-3367520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149096732	chr8:3367527-3367528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542794931	chr8:3367528-3367529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561449888	chr8:3367534-3367535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528774933	chr8:3367544-3367545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189090022	chr8:3367554-3367555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565626412	chr8:3367558-3367559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532910506	chr8:3367564-3367565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144773790	chr8:3367569-3367570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138349657	chr8:3367572-3367573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528447742	chr8:3367573-3367574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142868602	chr8:3367593-3367594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567488173	chr8:3367596-3367597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534876552	chr8:3367625-3367626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145039521	chr8:3367665-3367666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577942264	chr8:3367666-3367667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73503614	chr8:3367670-3367671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557064670	chr8:3367671-3367672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575311606	chr8:3367680-3367681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4875728	chr8:3367705-3367706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561494745	chr8:3367708-3367709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574644909	chr8:3367721-3367722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377595427	chr8:3367735-3367736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369124004	chr8:3367736-3367737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540896403	chr8:3367737-3367738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559101967	chr8:3367751-3367752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148299381	chr8:3367771-3367772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11994484	chr8:3367777-3367778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368171806	chr8:3367807-3367808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141392723	chr8:3367830-3367831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551191658	chr8:3367837-3367838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549207450	chr8:3367838-3367839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567407591	chr8:3367849-3367850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534633416	chr8:3367857-3367858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57051345	chr8:3367861-3367862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192809832	chr8:3367862-3367863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185366042	chr8:3367871-3367872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556931696	chr8:3367878-3367879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546943240	chr8:3367890-3367891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150915173	chr8:3367907-3367908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536301418	chr8:3367909-3367910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554886423	chr8:3367911-3367912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573352463	chr8:3367925-3367926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540457586	chr8:3367946-3367947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62474256	chr8:3367962-3367963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188407941	chr8:3367993-3367994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545064313	chr8:3368026-3368027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181144647	chr8:3368028-3368029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530622511	chr8:3368038-3368039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3362000-3368600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3368600-3369000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr8:3369000-3373000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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