Variant report

Variant	esv3412440
Chromosome Location	chr5:12185802-12187800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2109007	chr5:12185807-12185808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200311869	chr5:12185810-12185811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74487162	chr5:12185822-12185823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559374290	chr5:12185830-12185831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533163537	chr5:12185839-12185840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180901061	chr5:12185893-12185894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368522012	chr5:12185923-12185924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58779684	chr5:12185928-12185929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141216304	chr5:12185958-12185959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549642366	chr5:12185990-12185991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567906371	chr5:12185993-12185994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535182996	chr5:12186068-12186069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144939672	chr5:12186095-12186096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75549536	chr5:12186174-12186175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185270141	chr5:12186191-12186192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555975203	chr5:12186222-12186223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189593137	chr5:12186248-12186249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575975135	chr5:12186274-12186275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181841282	chr5:12186294-12186295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376291354	chr5:12186302-12186303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555237183	chr5:12186337-12186338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552707239	chr5:12186396-12186397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187063524	chr5:12186445-12186446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540785167	chr5:12186449-12186450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559435320	chr5:12186455-12186456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577687760	chr5:12186460-12186461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201199788	chr5:12186498-12186499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34805094	chr5:12186500-12186501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536667991	chr5:12186501-12186502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201097959	chr5:12186502-12186503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202010107	chr5:12186532-12186533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545469348	chr5:12186547-12186548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563573989	chr5:12186548-12186549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11749748	chr5:12186572-12186573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534828030	chr5:12186750-12186751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535656811	chr5:12186782-12186783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561526307	chr5:12186784-12186785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528714499	chr5:12186787-12186788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547191300	chr5:12186788-12186789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115368363	chr5:12186791-12186792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114128289	chr5:12186835-12186836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551445977	chr5:12186869-12186870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183253838	chr5:12186878-12186879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186564975	chr5:12186884-12186885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537004757	chr5:12186892-12186893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555251298	chr5:12186979-12186980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573565086	chr5:12187000-12187001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190096601	chr5:12187149-12187150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552783550	chr5:12187151-12187152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539600140	chr5:12187157-12187158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	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	chr5:12181800-12191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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