Variant report

Variant	esv2150762
Chromosome Location	chr8:63494307-63494736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4422765	chr8:63494312-63494313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145216808	chr8:63494319-63494320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538691777	chr8:63494334-63494335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535598793	chr8:63494339-63494340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71513482	chr8:63494376-63494377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7459782	chr8:63494377-63494378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116410249	chr8:63494379-63494380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7459783	chr8:63494399-63494400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190818992	chr8:63494408-63494409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112155839	chr8:63494410-63494411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571913759	chr8:63494411-63494412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543328255	chr8:63494417-63494418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150974561	chr8:63494420-63494421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182951941	chr8:63494422-63494423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113163919	chr8:63494427-63494428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112917567	chr8:63494442-63494443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74209385	chr8:63494447-63494448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79140970	chr8:63494467-63494468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556604128	chr8:63494470-63494471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373164365	chr8:63494494-63494495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111205593	chr8:63494496-63494497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377680476	chr8:63494498-63494499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370967386	chr8:63494499-63494500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111162556	chr8:63494508-63494509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369573421	chr8:63494515-63494516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138940387	chr8:63494530-63494531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547450005	chr8:63494533-63494534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs827685	chr8:63494535-63494536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188022523	chr8:63494548-63494549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111066296	chr8:63494555-63494556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71513483	chr8:63494586-63494587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567441954	chr8:63494587-63494588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs827686	chr8:63494598-63494599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550006113	chr8:63494604-63494605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139614809	chr8:63494638-63494639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538755264	chr8:63494656-63494657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553559608	chr8:63494690-63494691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139118595	chr8:63494693-63494694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149390492	chr8:63494706-63494707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377120164	chr8:63494708-63494709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201999078	chr8:63494709-63494710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572035732	chr8:63494720-63494721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535856110	chr8:63494724-63494725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63490600-63497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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