Variant report

Variant	esv3388861
Chromosome Location	chr8:85269047-85271245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370972909	chr8:85269058-85269059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375480291	chr8:85269069-85269070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145621181	chr8:85269116-85269117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372924235	chr8:85269117-85269118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371606938	chr8:85269168-85269169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573013483	chr8:85269172-85269173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181996397	chr8:85269191-85269192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558985146	chr8:85269198-85269199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185789578	chr8:85269219-85269220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544556501	chr8:85269221-85269222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575158132	chr8:85269241-85269242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142125944	chr8:85269267-85269268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146372133	chr8:85269276-85269277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139588965	chr8:85269289-85269290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551330236	chr8:85269296-85269297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575006919	chr8:85269394-85269395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190690488	chr8:85269414-85269415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182499677	chr8:85269432-85269433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72679309	chr8:85269433-85269434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375722361	chr8:85269458-85269459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186343828	chr8:85269473-85269474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543860330	chr8:85269481-85269482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570337937	chr8:85269504-85269505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539612855	chr8:85269553-85269554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73688488	chr8:85269592-85269593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569290188	chr8:85269600-85269601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191194478	chr8:85269606-85269607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554969258	chr8:85269655-85269656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182702832	chr8:85269657-85269658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73294938	chr8:85269669-85269670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372677353	chr8:85269675-85269676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117715450	chr8:85269681-85269682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111672669	chr8:85269739-85269740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574376226	chr8:85269769-85269770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546336620	chr8:85269781-85269782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112196073	chr8:85269802-85269803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187648889	chr8:85269812-85269813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111651707	chr8:85269821-85269822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374550766	chr8:85269896-85269897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561377970	chr8:85269920-85269921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527269307	chr8:85269970-85269971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111331811	chr8:85269992-85269993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528010177	chr8:85270006-85270007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546078936	chr8:85270039-85270040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9632839	chr8:85270115-85270116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73688489	chr8:85270131-85270132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549922463	chr8:85270149-85270150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569269086	chr8:85270190-85270191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538370861	chr8:85270221-85270222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540252323	chr8:85270267-85270268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85267200-85272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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