Variant report

Variant	esv3386611
Chromosome Location	chr5:41494995-41498593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376735741	chr5:41495001-41495002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554182587	chr5:41495037-41495038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572350032	chr5:41495085-41495086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546141057	chr5:41495087-41495088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73081507	chr5:41495147-41495148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370845045	chr5:41495152-41495153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544060482	chr5:41495169-41495170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562252434	chr5:41495172-41495173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529026051	chr5:41495197-41495198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547172347	chr5:41495205-41495206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55779563	chr5:41495220-41495221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565728057	chr5:41495222-41495223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188828786	chr5:41495290-41495291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537020586	chr5:41495297-41495298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550539691	chr5:41495316-41495317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570351996	chr5:41495320-41495321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536930543	chr5:41495323-41495324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181932296	chr5:41495340-41495341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567343658	chr5:41495346-41495347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534766094	chr5:41495361-41495362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553986712	chr5:41495515-41495516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142164208	chr5:41495569-41495570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151196346	chr5:41495572-41495573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562247263	chr5:41495574-41495575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558164194	chr5:41495586-41495587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57706334	chr5:41495654-41495655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373768247	chr5:41495670-41495671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576844646	chr5:41495676-41495677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185332185	chr5:41495680-41495681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140372554	chr5:41495691-41495692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529468418	chr5:41495703-41495704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190624790	chr5:41495772-41495773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34782039	chr5:41495837-41495838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59751170	chr5:41495843-41495844	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182235840	chr5:41495879-41495880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202008338	chr5:41496050-41496051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2876922	chr5:41496069-41496070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550994641	chr5:41496096-41496097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58452377	chr5:41496138-41496139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535826482	chr5:41496154-41496155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114619909	chr5:41496165-41496166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548866011	chr5:41496166-41496167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185255655	chr5:41496203-41496204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144161915	chr5:41496221-41496222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553106607	chr5:41496242-41496243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113942457	chr5:41496255-41496256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189918756	chr5:41496266-41496267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141204567	chr5:41496268-41496269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369551338	chr5:41496283-41496284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549993077	chr5:41496290-41496291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	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	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41486200-41497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:41494400-41495200	Weak transcription	Left Ventricle	heart
3	chr5:41494400-41504600	Weak transcription	Ovary	ovary
4	chr5:41494800-41495000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:41494800-41496000	Enhancers	Fetal Heart	heart
6	chr5:41495000-41495400	Enhancers	Right Ventricle	heart
7	chr5:41495000-41495600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:41495200-41495400	Enhancers	Left Ventricle	heart
9	chr5:41495400-41495600	Weak transcription	Left Ventricle	heart
10	chr5:41495600-41495800	Enhancers	Left Ventricle	heart
11	chr5:41495800-41507000	Weak transcription	Left Ventricle	heart
12	chr5:41496000-41497800	Weak transcription	Fetal Heart	heart
13	chr5:41497200-41498400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:41497800-41504000	Enhancers	Fetal Heart	heart
15	chr5:41498400-41500000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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