Variant report

Variant	esv2762717
Chromosome Location	chr8:4596700-4597073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143151466	chr8:4596704-4596705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533076222	chr8:4596721-4596722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190553086	chr8:4596723-4596724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151220377	chr8:4596727-4596728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537214000	chr8:4596735-4596736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575914797	chr8:4596753-4596754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80082862	chr8:4596755-4596756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141489680	chr8:4596759-4596760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534602033	chr8:4596776-4596777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62484601	chr8:4596784-4596785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1457186	chr8:4596801-4596802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs539954235	chr8:4596812-4596813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557804536	chr8:4596834-4596835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576235660	chr8:4596841-4596842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543571071	chr8:4596870-4596871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137865823	chr8:4596882-4596883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574323053	chr8:4596886-4596887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141977793	chr8:4596929-4596930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559335315	chr8:4596930-4596931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532757941	chr8:4596931-4596932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376788091	chr8:4596933-4596934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564318914	chr8:4596936-4596937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182727576	chr8:4596940-4596941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79485750	chr8:4596949-4596950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370586901	chr8:4596958-4596959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530732433	chr8:4596960-4596961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138546857	chr8:4596962-4596963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1628982	chr8:4596988-4596989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187052981	chr8:4597022-4597023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1628885	chr8:4597023-4597024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529387960	chr8:4597039-4597040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566089060	chr8:4597054-4597055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531459116	chr8:4597056-4597057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557841302	chr8:4597067-4597068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149612099	chr8:4597070-4597071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7014938	chr8:4597073-4597074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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	chr8:4593800-4616600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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