Variant report

Variant	esv3447707
Chromosome Location	chr8:51483099-51488397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:135846774..135848617-chr8:51481190..51483855,2	MCF-7	breast:

Extended variants
information (count: 245 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533755256	chr8:51483110-51483111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145558079	chr8:51483124-51483125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577888118	chr8:51483125-51483126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199649376	chr8:51483139-51483140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200593183	chr8:51483142-51483143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151244285	chr8:51483145-51483146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372528845	chr8:51483146-51483147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138488676	chr8:51483148-51483149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144442105	chr8:51483151-51483152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10100717	chr8:51483154-51483155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62516786	chr8:51483157-51483158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575006517	chr8:51483169-51483170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61229968	chr8:51483183-51483184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576773699	chr8:51483196-51483197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190140713	chr8:51483303-51483304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370420584	chr8:51483304-51483305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181364125	chr8:51483341-51483342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71512000	chr8:51483354-51483355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542977275	chr8:51483368-51483369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561238987	chr8:51483371-51483372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540095010	chr8:51483418-51483419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558079523	chr8:51483429-51483430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186040219	chr8:51483451-51483452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1481479	chr8:51483461-51483462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567009244	chr8:51483475-51483476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551308242	chr8:51483493-51483494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111749423	chr8:51483517-51483518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190847810	chr8:51483540-51483541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529679141	chr8:51483548-51483549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78156393	chr8:51483549-51483550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6987557	chr8:51483551-51483552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184033438	chr8:51483607-51483608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369120060	chr8:51483621-51483622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558369326	chr8:51483631-51483632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570321916	chr8:51483662-51483663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138303759	chr8:51483669-51483670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143797959	chr8:51483687-51483688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146596619	chr8:51483713-51483714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542687801	chr8:51483722-51483723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139169308	chr8:51483736-51483737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573306460	chr8:51483740-51483741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141459961	chr8:51483750-51483751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150888743	chr8:51483753-51483754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138271007	chr8:51483772-51483773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149641302	chr8:51483796-51483797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563056395	chr8:51483817-51483818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530406500	chr8:51483848-51483849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547922662	chr8:51483862-51483863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146141484	chr8:51483873-51483874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527252720	chr8:51483881-51483882	Enhancers 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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51471200-51489400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51483600-51484000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:51483600-51484200	Enhancers	Liver	Liver

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