Variant report

Variant	esv3338410
Chromosome Location	chr5:103372903-103374151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542308802	chr5:103372905-103372906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183192114	chr5:103372906-103372907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377117066	chr5:103372914-103372915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186934251	chr5:103372915-103372916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189914758	chr5:103372934-103372935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143565120	chr5:103372935-103372936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1420862	chr5:103372943-103372944	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530869055	chr5:103372948-103372949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577770059	chr5:103372986-103372987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560872741	chr5:103373017-103373018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377014070	chr5:103373036-103373037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182167131	chr5:103373058-103373059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546746853	chr5:103373081-103373082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112022604	chr5:103373083-103373084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566992555	chr5:103373122-103373123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550293799	chr5:103373123-103373124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60305106	chr5:103373138-103373139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539324009	chr5:103373242-103373243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552202302	chr5:103373252-103373253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546504234	chr5:103373273-103373274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200157334	chr5:103373296-103373297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569195923	chr5:103373301-103373302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538107374	chr5:103373310-103373311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187908885	chr5:103373317-103373318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574904608	chr5:103373337-103373338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534419594	chr5:103373360-103373361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4535432	chr5:103373362-103373363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114437853	chr5:103373381-103373382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140607335	chr5:103373410-103373411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200925942	chr5:103373424-103373425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555487379	chr5:103373487-103373488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540162431	chr5:103373490-103373491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150153642	chr5:103373494-103373495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193213480	chr5:103373616-103373617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544151140	chr5:103373700-103373701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561253966	chr5:103373724-103373725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573775065	chr5:103373780-103373781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529836163	chr5:103373801-103373802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546803568	chr5:103373915-103373916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560213116	chr5:103373919-103373920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185353303	chr5:103374028-103374029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79063801	chr5:103374035-103374036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568862584	chr5:103374076-103374077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578199710	chr5:103374096-103374097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537868748	chr5:103374113-103374114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188571077	chr5:103374114-103374115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568769226	chr5:103374134-103374135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534108579	chr5:103374135-103374136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545338000	chr5:103374138-103374139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103370000-103373000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:103372400-103373200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:103373000-103373200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr5:103373000-103373800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:103373200-103374000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:103373800-103374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:103374000-103374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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