Variant report

Variant	esv3471539
Chromosome Location	chr5:37686093-37686778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115424205	chr5:37686096-37686097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114955022	chr5:37686105-37686106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538320035	chr5:37686138-37686139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542089278	chr5:37686153-37686154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72743159	chr5:37686156-37686157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568456278	chr5:37686176-37686177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371479930	chr5:37686177-37686178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554399341	chr5:37686185-37686186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181141219	chr5:37686186-37686187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539991051	chr5:37686197-37686198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530746417	chr5:37686217-37686218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78701126	chr5:37686238-37686239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543892276	chr5:37686250-37686251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373915556	chr5:37686280-37686281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78669279	chr5:37686291-37686292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55711879	chr5:37686292-37686293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67241234	chr5:37686293-37686294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541481045	chr5:37686388-37686389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116104080	chr5:37686389-37686390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7732315	chr5:37686427-37686428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12517792	chr5:37686478-37686479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564270136	chr5:37686625-37686626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528934112	chr5:37686699-37686700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78784387	chr5:37686715-37686716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75892352	chr5:37686723-37686724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531577037	chr5:37686732-37686733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
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
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
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
Medulloblastoma	19270706	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
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19197363	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37680200-37690400	Weak transcription	Aorta	Aorta
2	chr5:37681000-37689000	Weak transcription	Right Ventricle	heart
3	chr5:37682200-37698000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:37682800-37696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:37683400-37688800	Weak transcription	Fetal Intestine Small	intestine
6	chr5:37683600-37694200	Weak transcription	Dnd41	blood
7	chr5:37683800-37696600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:37684400-37700000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:37684400-37705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:37685000-37686800	Enhancers	Fetal Muscle Leg	muscle
11	chr5:37685000-37695800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:37685200-37688600	Weak transcription	Primary B cells from cord blood	blood
13	chr5:37685200-37696600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:37685200-37743200	Weak transcription	Gastric	stomach
15	chr5:37685400-37686400	Enhancers	Fetal Muscle Trunk	muscle
16	chr5:37685400-37688800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:37685400-37688800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:37685400-37689000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:37685400-37717600	Weak transcription	Pancreas	Pancrea
20	chr5:37685600-37711200	Weak transcription	Fetal Stomach	stomach
21	chr5:37685600-37727000	Weak transcription	Lung	lung
22	chr5:37686400-37691200	Weak transcription	Fetal Muscle Trunk	muscle

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