Variant report

Variant	esv2122452
Chromosome Location	chr8:51647131-51647554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28432973	chr8:51647190-51647191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569161962	chr8:51647209-51647210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28473191	chr8:51647211-51647212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185950020	chr8:51647262-51647263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548031325	chr8:51647265-51647266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144233101	chr8:51647275-51647276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28683156	chr8:51647305-51647306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553410780	chr8:51647312-51647313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577762282	chr8:51647315-51647316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538639869	chr8:51647319-51647320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199687164	chr8:51647331-51647332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564140050	chr8:51647333-51647334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199572459	chr8:51647337-51647338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200113693	chr8:51647339-51647340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201957410	chr8:51647340-51647341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200356757	chr8:51647341-51647342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556946205	chr8:51647352-51647353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533375916	chr8:51647353-51647354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201679310	chr8:51647354-51647355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28397200	chr8:51647365-51647366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367730484	chr8:51647367-51647368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530687539	chr8:51647389-51647390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543328620	chr8:51647392-51647393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561293933	chr8:51647394-51647395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200920191	chr8:51647396-51647397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573372891	chr8:51647408-51647409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540496337	chr8:51647409-51647410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28514747	chr8:51647416-51647417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532283744	chr8:51647418-51647419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191663139	chr8:51647424-51647425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28666443	chr8:51647432-51647433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28371042	chr8:51647433-51647434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202078145	chr8:51647434-51647435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567050985	chr8:51647459-51647460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60897202	chr8:51647480-51647481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61686899	chr8:51647481-51647482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28818278	chr8:51647488-51647489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76092173	chr8:51647496-51647497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201818262	chr8:51647497-51647498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55922342	chr8:51647505-51647506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57632655	chr8:51647506-51647507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201998508	chr8:51647508-51647509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61540178	chr8:51647516-51647517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56152926	chr8:51647517-51647518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57364009	chr8:51647525-51647526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78904401	chr8:51647526-51647527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549005716	chr8:51647550-51647551	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	chr8:51608000-51648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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