Variant report

Variant	esv2050334
Chromosome Location	chr8:3240766-3241175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:3239734..3241510-chr8:3243012..3245362,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113950264	chr8:3240766-3240767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542401650	chr8:3240778-3240779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182219792	chr8:3240780-3240781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78413419	chr8:3240790-3240791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571485174	chr8:3240791-3240792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117581118	chr8:3240834-3240835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564710108	chr8:3240838-3240839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117066862	chr8:3240840-3240841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371241272	chr8:3240845-3240846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562207449	chr8:3240848-3240849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150270496	chr8:3240865-3240866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7813808	chr8:3240875-3240876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562909472	chr8:3240876-3240877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566702528	chr8:3240892-3240893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527577982	chr8:3240900-3240901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531848103	chr8:3240906-3240907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186889381	chr8:3240930-3240931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190047301	chr8:3240945-3240946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538209718	chr8:3240955-3240956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553756938	chr8:3240956-3240957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181175429	chr8:3240958-3240959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536001114	chr8:3241004-3241005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554062985	chr8:3241020-3241021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572634537	chr8:3241021-3241022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573704123	chr8:3241033-3241034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536206165	chr8:3241036-3241037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139286581	chr8:3241059-3241060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377559926	chr8:3241069-3241070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571309296	chr8:3241075-3241076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11783770	chr8:3241076-3241077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562145746	chr8:3241097-3241098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529733859	chr8:3241102-3241103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541562335	chr8:3241103-3241104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560071070	chr8:3241112-3241113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527456070	chr8:3241132-3241133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552103930	chr8:3241136-3241137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11780204	chr8:3241165-3241166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:124)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3239600-3253600	Weak transcription	Brain Inferior Temporal Lobe	brain

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