Variant report

Variant	esv3325871
Chromosome Location	chr8:53438299-53440247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550436857	chr8:53438310-53438311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568504129	chr8:53438316-53438317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550142062	chr8:53438332-53438333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115886793	chr8:53438374-53438375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76446540	chr8:53438386-53438387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114592525	chr8:53438420-53438421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553502650	chr8:53438421-53438422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578136137	chr8:53438437-53438438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544433551	chr8:53438540-53438541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188047325	chr8:53438551-53438552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141236824	chr8:53438588-53438589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543003012	chr8:53438623-53438624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35632662	chr8:53438648-53438649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561283244	chr8:53438782-53438783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192859694	chr8:53438901-53438902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575396339	chr8:53438905-53438906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570265332	chr8:53438943-53438944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368355931	chr8:53438954-53438955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537976516	chr8:53439054-53439055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568673152	chr8:53439068-53439069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201121578	chr8:53439077-53439078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201361715	chr8:53439079-53439080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557765663	chr8:53439080-53439081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199537700	chr8:53439124-53439125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200225959	chr8:53439126-53439127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565074875	chr8:53439153-53439154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539888729	chr8:53439163-53439164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6150583	chr8:53439167-53439168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532246666	chr8:53439169-53439170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184668593	chr8:53439170-53439171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28760064	chr8:53439174-53439175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28823051	chr8:53439175-53439176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376320884	chr8:53439181-53439182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28749855	chr8:53439191-53439192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550647818	chr8:53439231-53439232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188803265	chr8:53439277-53439278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539857120	chr8:53439308-53439309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547746490	chr8:53439355-53439356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566151164	chr8:53439374-53439375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535302305	chr8:53439378-53439379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118110728	chr8:53439455-53439456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571811517	chr8:53439485-53439486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538811814	chr8:53439574-53439575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371924168	chr8:53439621-53439622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9657150	chr8:53439641-53439642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575774744	chr8:53439664-53439665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2165378	chr8:53439668-53439669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2165379	chr8:53439684-53439685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192890905	chr8:53439727-53439728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111691202	chr8:53439728-53439729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
low-grade B-cell lymphoma tumor	18367492	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	21645411	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	chr8:53436400-53444000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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