Variant report

Variant	esv3343761
Chromosome Location	chr8:65021598-65024596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112405675	chr8:65021599-65021600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577759825	chr8:65021619-65021620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545235916	chr8:65021620-65021621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146699926	chr8:65021642-65021643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139077142	chr8:65021694-65021695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540710503	chr8:65021759-65021760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144003255	chr8:65021807-65021808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182619921	chr8:65021826-65021827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550659659	chr8:65021847-65021848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188096937	chr8:65021851-65021852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533452621	chr8:65021864-65021865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551989714	chr8:65021884-65021885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114400674	chr8:65021889-65021890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201514852	chr8:65021920-65021921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534101064	chr8:65021950-65021951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1444512	chr8:65022005-65022006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566984227	chr8:65022026-65022027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149228789	chr8:65022072-65022073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142461010	chr8:65022074-65022075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577909771	chr8:65022169-65022170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538542348	chr8:65022171-65022172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575173151	chr8:65022197-65022198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554038524	chr8:65022198-65022199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572290818	chr8:65022213-65022214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542808649	chr8:65022219-65022220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35615344	chr8:65022265-65022266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562172878	chr8:65022297-65022298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574002873	chr8:65022321-65022322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116515124	chr8:65022332-65022333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151287495	chr8:65022333-65022334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117842706	chr8:65022346-65022347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533712454	chr8:65022363-65022364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551635082	chr8:65022419-65022420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560381904	chr8:65022448-65022449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527892343	chr8:65022453-65022454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191020617	chr8:65022463-65022464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567072083	chr8:65022491-65022492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs920875	chr8:65022525-65022526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554229126	chr8:65022558-65022559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549783312	chr8:65022614-65022615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374585702	chr8:65022632-65022633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571134686	chr8:65022635-65022636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538602581	chr8:65022665-65022666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200976532	chr8:65022681-65022682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182606724	chr8:65022682-65022683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565939497	chr8:65022713-65022714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188863720	chr8:65022746-65022747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201820828	chr8:65022817-65022818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376783402	chr8:65022849-65022850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76946843	chr8:65022891-65022892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65006000-65024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:65024200-65024400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links