Variant report

Variant	esv3441895
Chromosome Location	chr8:4584369-4586917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:201 , 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	rs115347243	chr8:4584371-4584372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191365513	chr8:4584387-4584388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577402185	chr8:4584391-4584392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374266569	chr8:4584402-4584403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62484590	chr8:4584447-4584448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs293875	chr8:4584458-4584459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573617387	chr8:4584459-4584460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77866225	chr8:4584486-4584487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554803890	chr8:4584514-4584515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183179411	chr8:4584519-4584520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112263491	chr8:4584531-4584532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552020024	chr8:4584572-4584573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187713086	chr8:4584592-4584593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370854492	chr8:4584595-4584596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531426406	chr8:4584599-4584600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549528549	chr8:4584612-4584613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76819227	chr8:4584626-4584627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114647998	chr8:4584670-4584671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs293876	chr8:4584685-4584686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372189665	chr8:4584690-4584691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140473843	chr8:4584696-4584697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35589295	chr8:4584709-4584710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540922412	chr8:4584714-4584715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374042355	chr8:4584718-4584719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530830216	chr8:4584730-4584731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538458873	chr8:4584747-4584748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556755042	chr8:4584750-4584751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144439488	chr8:4584757-4584758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542592014	chr8:4584760-4584761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570866050	chr8:4584764-4584765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560824351	chr8:4584785-4584786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189906855	chr8:4584788-4584789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545755104	chr8:4584797-4584798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182154477	chr8:4584804-4584805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565470124	chr8:4584808-4584809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549567032	chr8:4584821-4584822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561591553	chr8:4584835-4584836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187896368	chr8:4584873-4584874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527837563	chr8:4584882-4584883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73659198	chr8:4584888-4584889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192376334	chr8:4584898-4584899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533962941	chr8:4584903-4584904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147845338	chr8:4584922-4584923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371010382	chr8:4584961-4584962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570868013	chr8:4584962-4584963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113866585	chr8:4584986-4584987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77507234	chr8:4584995-4584996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575127227	chr8:4585001-4585002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536035477	chr8:4585016-4585017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554189743	chr8:4585048-4585049	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:2 , 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
2	chr8:4586800-4587800	Enhancers	Cortex derived primary cultured neurospheres	brain

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