Variant report

Variant	esv3402218
Chromosome Location	chr8:4585094-4586292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572664319	chr8:4585101-4585102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371602576	chr8:4585113-4585114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376669295	chr8:4585115-4585116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73659199	chr8:4585128-4585129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188582061	chr8:4585138-4585139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35450884	chr8:4585146-4585147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368218514	chr8:4585160-4585161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564061254	chr8:4585175-4585176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532287210	chr8:4585199-4585200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56711397	chr8:4585205-4585206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575627553	chr8:4585209-4585210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549726141	chr8:4585231-4585232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368716095	chr8:4585244-4585245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78993356	chr8:4585249-4585250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561435912	chr8:4585256-4585257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192779092	chr8:4585267-4585268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529084209	chr8:4585272-4585273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184956931	chr8:4585279-4585280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547543916	chr8:4585287-4585288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12543048	chr8:4585334-4585335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75652914	chr8:4585342-4585343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367981822	chr8:4585356-4585357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372213931	chr8:4585358-4585359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570872622	chr8:4585360-4585361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115668281	chr8:4585365-4585366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556024571	chr8:4585379-4585380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568538032	chr8:4585381-4585382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536070221	chr8:4585415-4585416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559043031	chr8:4585422-4585423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149878113	chr8:4585436-4585437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555237526	chr8:4585448-4585449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372836329	chr8:4585449-4585450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs293877	chr8:4585472-4585473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540170870	chr8:4585485-4585486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202056819	chr8:4585487-4585488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200377444	chr8:4585490-4585491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs68115919	chr8:4585491-4585492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386411935	chr8:4585497-4585498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397705866	chr8:4585498-4585499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5889058	chr8:4585499-4585500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7463383	chr8:4585501-4585502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537525671	chr8:4585533-4585534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373588097	chr8:4585543-4585544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149036043	chr8:4585569-4585570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144641123	chr8:4585576-4585577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138606181	chr8:4585593-4585594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141338830	chr8:4585594-4585595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574268440	chr8:4585602-4585603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7008439	chr8:4585657-4585658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559453145	chr8:4585659-4585660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4570600-4586800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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