Variant report

Variant	esv3379806
Chromosome Location	chr5:42707046-42707709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566569571	chr5:42707046-42707047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372556715	chr5:42707050-42707051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199884186	chr5:42707062-42707063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533861893	chr5:42707096-42707097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373907772	chr5:42707130-42707131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377705560	chr5:42707142-42707143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543853937	chr5:42707146-42707147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56380282	chr5:42707200-42707201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535927033	chr5:42707229-42707230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185989645	chr5:42707242-42707243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141556492	chr5:42707280-42707281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55850102	chr5:42707284-42707285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542969764	chr5:42707308-42707309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561505080	chr5:42707321-42707322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555567545	chr5:42707322-42707323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528708452	chr5:42707327-42707328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202084021	chr5:42707328-42707329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79038131	chr5:42707335-42707336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4866948	chr5:42707386-42707387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115623124	chr5:42707435-42707436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565420504	chr5:42707499-42707500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190550875	chr5:42707504-42707505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534854922	chr5:42707512-42707513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553486563	chr5:42707534-42707535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182265879	chr5:42707536-42707537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529972489	chr5:42707540-42707541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150003123	chr5:42707550-42707551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374010380	chr5:42707572-42707573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548212214	chr5:42707618-42707619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74614193	chr5:42707643-42707644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566641561	chr5:42707682-42707683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	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	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
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42688400-42722200	Weak transcription	Pancreas	Pancrea
2	chr5:42698000-42718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:42698800-42718600	Weak transcription	Left Ventricle	heart
4	chr5:42701200-42718800	Weak transcription	Fetal Stomach	stomach
5	chr5:42701600-42718600	Weak transcription	Ovary	ovary
6	chr5:42703800-42718600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:42705800-42718600	Weak transcription	Aorta	Aorta
8	chr5:42706000-42708400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:42706000-42720400	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:42706400-42718800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:42707000-42708800	Weak transcription	Liver	Liver
12	chr5:42707000-42718600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:42707000-42718600	Weak transcription	Fetal Lung	lung
14	chr5:42707200-42709200	Weak transcription	Adipose Nuclei	Adipose

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