Variant report

Variant	esv2461407
Chromosome Location	chr8:65746678-65748141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561361478	chr8:65746713-65746714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528817592	chr8:65746719-65746720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545589893	chr8:65746751-65746752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550266107	chr8:65746801-65746802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143323647	chr8:65746869-65746870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558396311	chr8:65746919-65746920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562420945	chr8:65746951-65746952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182448092	chr8:65746982-65746983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570937752	chr8:65747011-65747012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114539940	chr8:65747025-65747026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553670560	chr8:65747038-65747039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568466410	chr8:65747050-65747051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200382236	chr8:65747051-65747052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7008209	chr8:65747054-65747055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201110232	chr8:65747066-65747067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373485158	chr8:65747087-65747088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57013535	chr8:65747088-65747089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7008230	chr8:65747110-65747111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6988049	chr8:65747118-65747119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62521159	chr8:65747170-65747171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113884170	chr8:65747201-65747202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202021898	chr8:65747253-65747254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557379869	chr8:65747265-65747266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575840178	chr8:65747286-65747287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147975012	chr8:65747298-65747299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557954515	chr8:65747309-65747310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572914970	chr8:65747314-65747315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540530453	chr8:65747324-65747325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561603178	chr8:65747330-65747331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570842186	chr8:65747341-65747342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187926934	chr8:65747348-65747349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193020630	chr8:65747388-65747389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76286989	chr8:65747413-65747414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183376150	chr8:65747419-65747420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187504578	chr8:65747432-65747433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571042679	chr8:65747438-65747439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528639260	chr8:65747449-65747450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547209956	chr8:65747484-65747485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568807511	chr8:65747516-65747517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201249604	chr8:65747540-65747541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201117325	chr8:65747549-65747550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536137806	chr8:65747552-65747553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551021295	chr8:65747554-65747555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547212976	chr8:65747555-65747556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569128297	chr8:65747561-65747562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373255800	chr8:65747581-65747582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566963686	chr8:65747592-65747593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192319395	chr8:65747594-65747595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570333808	chr8:65747595-65747596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201168827	chr8:65747599-65747600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Adenoid cystic carcinoma	18332873	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65745800-65746800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:65746800-65750800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links