Variant report

Variant	esv3434397
Chromosome Location	chr5:27584244-27599518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10072472	chr5:27592048-27592049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373539911	chr5:27592086-27592087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548647041	chr5:27592100-27592101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567158904	chr5:27592128-27592129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10057484	chr5:27592140-27592141	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184954832	chr5:27592149-27592150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372351690	chr5:27592181-27592182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189736311	chr5:27592189-27592190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72739460	chr5:27592209-27592210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192654201	chr5:27592214-27592215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573186875	chr5:27592230-27592231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75344044	chr5:27592257-27592258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184550277	chr5:27592289-27592290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574146058	chr5:27592306-27592307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114356251	chr5:27592355-27592356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563061917	chr5:27592362-27592363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115264433	chr5:27592386-27592387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545681724	chr5:27592465-27592466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559921805	chr5:27592475-27592476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527278296	chr5:27592482-27592483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548536066	chr5:27592492-27592493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534907834	chr5:27592494-27592495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531259435	chr5:27592521-27592522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189289205	chr5:27592594-27592595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141328677	chr5:27592618-27592619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552727385	chr5:27592630-27592631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144677641	chr5:27592660-27592661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2329658	chr5:27592712-27592713	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181905338	chr5:27592772-27592773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559051964	chr5:27592789-27592790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577541447	chr5:27592791-27592792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534197443	chr5:27592823-27592824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138621043	chr5:27592849-27592850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386686571	chr5:27592868-27592869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2329660	chr5:27592870-27592871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185686383	chr5:27592871-27592872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545414041	chr5:27592988-27592989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201761399	chr5:27593006-27593007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189027952	chr5:27593070-27593071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572376918	chr5:27593081-27593082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542218704	chr5:27593094-27593095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200122155	chr5:27593155-27593156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181857138	chr5:27593236-27593237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531344560	chr5:27593242-27593243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555040740	chr5:27593309-27593310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141618350	chr5:27593310-27593311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564959425	chr5:27593313-27593314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532318159	chr5:27593334-27593335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539011430	chr5:27593344-27593345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150304230	chr5:27593379-27593380	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27592000-27592400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:27592000-27592800	Enhancers	NH-A	brain
3	chr5:27592400-27593200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:27592400-27593600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:27593200-27593400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:27593400-27594400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:27594400-27594600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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