Variant report

Variant	esv3371459
Chromosome Location	chr8:51583099-51587297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531770130	chr8:51583136-51583137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549988674	chr8:51583140-51583141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567785055	chr8:51583149-51583150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188028779	chr8:51583154-51583155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13281582	chr8:51583158-51583159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370616252	chr8:51583176-51583177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373995903	chr8:51583181-51583182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4370541	chr8:51583208-51583209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13281668	chr8:51583234-51583235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375806903	chr8:51583239-51583240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565542564	chr8:51583243-51583244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539465883	chr8:51583279-51583280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4270975	chr8:51583285-51583286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576440460	chr8:51583321-51583322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537221965	chr8:51583322-51583323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555624363	chr8:51583323-51583324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574953287	chr8:51583329-51583330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541969304	chr8:51583348-51583349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560453040	chr8:51583350-51583351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572349872	chr8:51583351-51583352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546210409	chr8:51583421-51583422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564414875	chr8:51583435-51583436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78271765	chr8:51583463-51583464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549925526	chr8:51583599-51583600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200197442	chr8:51583653-51583654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144967618	chr8:51583669-51583670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528934639	chr8:51583704-51583705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148603276	chr8:51583744-51583745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565808616	chr8:51583766-51583767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539047323	chr8:51583773-51583774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551424701	chr8:51583787-51583788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569939684	chr8:51583822-51583823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537360862	chr8:51583824-51583825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555563098	chr8:51583861-51583862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551649948	chr8:51583916-51583917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573886740	chr8:51583939-51583940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62516846	chr8:51583973-51583974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553956253	chr8:51583975-51583976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572528384	chr8:51583995-51583996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538341620	chr8:51583996-51583997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113818556	chr8:51584000-51584001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545847741	chr8:51584033-51584034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190553439	chr8:51584037-51584038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576286967	chr8:51584040-51584041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78546727	chr8:51584081-51584082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543708684	chr8:51584091-51584092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562090303	chr8:51584133-51584134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529454951	chr8:51584148-51584149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150804103	chr8:51584192-51584193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7000265	chr8:51584225-51584226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51570200-51595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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