Variant report

Variant	esv275026
Chromosome Location	chr8:63323483-63328875
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	chr8:63319277..63321241-chr8:63321848..63324051,2	K562	blood:

Extended variants
information (count: 215 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:215 , 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	rs564123458	chr8:63323487-63323488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145641678	chr8:63323490-63323491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539836321	chr8:63323491-63323492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562438328	chr8:63323539-63323540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557338093	chr8:63323542-63323543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77137987	chr8:63323599-63323600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571377132	chr8:63323620-63323621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34883125	chr8:63323637-63323638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574003314	chr8:63323651-63323652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565895350	chr8:63323721-63323722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536280318	chr8:63323733-63323734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550829051	chr8:63323756-63323757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562752173	chr8:63323760-63323761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374114650	chr8:63323795-63323796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537199563	chr8:63323886-63323887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377612475	chr8:63323929-63323930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551510254	chr8:63323941-63323942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566845715	chr8:63323994-63323995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556896507	chr8:63324036-63324037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534234317	chr8:63324145-63324146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191862720	chr8:63324147-63324148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567620481	chr8:63324159-63324160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111316749	chr8:63324163-63324164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141842007	chr8:63324178-63324179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536139097	chr8:63324194-63324195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370804606	chr8:63324195-63324196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553387584	chr8:63324224-63324225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144650804	chr8:63324269-63324270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539641275	chr8:63324281-63324282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117462021	chr8:63324296-63324297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375434253	chr8:63324300-63324301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78024652	chr8:63324320-63324321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375002972	chr8:63324321-63324322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184249863	chr8:63324352-63324353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62509251	chr8:63324406-63324407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188533828	chr8:63324430-63324431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565078465	chr8:63324487-63324488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192186543	chr8:63324519-63324520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184982025	chr8:63324553-63324554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562839472	chr8:63324566-63324567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533391911	chr8:63324595-63324596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545185106	chr8:63324625-63324626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575304299	chr8:63324638-63324639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560665570	chr8:63324643-63324644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544509332	chr8:63324706-63324707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190819959	chr8:63324721-63324722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182059747	chr8:63324731-63324732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549421480	chr8:63324754-63324755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578050105	chr8:63324836-63324837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71255335	chr8:63324877-63324878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63317600-63333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63327600-63330600	Weak transcription	Fetal Brain Male	brain

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