Variant report

Variant	esv3369426
Chromosome Location	chr8:88003962-88004550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186082737	chr8:88003973-88003974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560305139	chr8:88003984-88003985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527820888	chr8:88004004-88004005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527648824	chr8:88004015-88004016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6468610	chr8:88004021-88004022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561319521	chr8:88004036-88004037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6468611	chr8:88004037-88004038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115687348	chr8:88004044-88004045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142870239	chr8:88004046-88004047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538985760	chr8:88004077-88004078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548037541	chr8:88004116-88004117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369572630	chr8:88004134-88004135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566354201	chr8:88004140-88004141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533737775	chr8:88004158-88004159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554942517	chr8:88004161-88004162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573445602	chr8:88004211-88004212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76466059	chr8:88004275-88004276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150629683	chr8:88004290-88004291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76345188	chr8:88004293-88004294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544989011	chr8:88004316-88004317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553992432	chr8:88004317-88004318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572351933	chr8:88004349-88004350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543090798	chr8:88004428-88004429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117972263	chr8:88004442-88004443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142515359	chr8:88004455-88004456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567250921	chr8:88004464-88004465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531870442	chr8:88004465-88004466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191038141	chr8:88004474-88004475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565355376	chr8:88004475-88004476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139788241	chr8:88004483-88004484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535644045	chr8:88004491-88004492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369141063	chr8:88004492-88004493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547780688	chr8:88004513-88004514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372779465	chr8:88004539-88004540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:88001600-88006000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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