Variant report

Variant	esv3505562
Chromosome Location	chr8:85452085-85452598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12544283	chr8:85452085-85452086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6989667	chr8:85452089-85452090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371659585	chr8:85452111-85452112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376151235	chr8:85452113-85452114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371459024	chr8:85452114-85452115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368440099	chr8:85452117-85452118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372463105	chr8:85452119-85452120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377122718	chr8:85452121-85452122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112894819	chr8:85452122-85452123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs783785	chr8:85452123-85452124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556328764	chr8:85452135-85452136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576220818	chr8:85452136-85452137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556314330	chr8:85452146-85452147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377063307	chr8:85452159-85452160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541919662	chr8:85452203-85452204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201417137	chr8:85452252-85452253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7820792	chr8:85452289-85452290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146886311	chr8:85452290-85452291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541013351	chr8:85452307-85452308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185232207	chr8:85452329-85452330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10504805	chr8:85452398-85452399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112367924	chr8:85452426-85452427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549579202	chr8:85452457-85452458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536080345	chr8:85452479-85452480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569482853	chr8:85452501-85452502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531694221	chr8:85452502-85452503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548235300	chr8:85452532-85452533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138650642	chr8:85452548-85452549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368247814	chr8:85452549-85452550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568404828	chr8:85452555-85452556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115351118	chr8:85452574-85452575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189752521	chr8:85452580-85452581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85436200-85461200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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