Variant report

Variant	esv3480460
Chromosome Location	chr8:51217513-51219215
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	chr8:51219065..51222213-chr8:51225649..51228332,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542557050	chr8:51217532-51217533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367613799	chr8:51217548-51217549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149950435	chr8:51217552-51217553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28496647	chr8:51217570-51217571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559961655	chr8:51217577-51217578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183569022	chr8:51217590-51217591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7830244	chr8:51217609-51217610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140749460	chr8:51217610-51217611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573490633	chr8:51217629-51217630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144609328	chr8:51217661-51217662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147915823	chr8:51217662-51217663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187454729	chr8:51217684-51217685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11368486	chr8:51217690-51217691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535598936	chr8:51217727-51217728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368659537	chr8:51217798-51217799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192295039	chr8:51217811-51217812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565050959	chr8:51217854-51217855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564028102	chr8:51217886-51217887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10088356	chr8:51217894-51217895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143768035	chr8:51217917-51217918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577670323	chr8:51218061-51218062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141562073	chr8:51218084-51218085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398047211	chr8:51218085-51218086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371616336	chr8:51218110-51218111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5891361	chr8:51218115-51218116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3057306	chr8:51218116-51218117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112548267	chr8:51218121-51218122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184883888	chr8:51218166-51218167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1375947	chr8:51218173-51218174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188080726	chr8:51218183-51218184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78090770	chr8:51218202-51218203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550659367	chr8:51218204-51218205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569547239	chr8:51218210-51218211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529049371	chr8:51218254-51218255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542393614	chr8:51218273-51218274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76912146	chr8:51218280-51218281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76160713	chr8:51218400-51218401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111420026	chr8:51218429-51218430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559531699	chr8:51218449-51218450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4347005	chr8:51218454-51218455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370714068	chr8:51218463-51218464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398112451	chr8:51218476-51218477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112341035	chr8:51218511-51218512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192552696	chr8:51218512-51218513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151080075	chr8:51218531-51218532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535290101	chr8:51218538-51218539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571260032	chr8:51218596-51218597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7835144	chr8:51218611-51218612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11985777	chr8:51218642-51218643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538615093	chr8:51218651-51218652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51209400-51220600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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