Variant report

Variant	esv2137795
Chromosome Location	chr5:124484183-124484620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10071085	chr5:124484200-124484201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571020208	chr5:124484206-124484207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541820304	chr5:124484210-124484211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556277737	chr5:124484223-124484224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12189383	chr5:124484247-124484248	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144737659	chr5:124484267-124484268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111827543	chr5:124484268-124484269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13167433	chr5:124484297-124484298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13187207	chr5:124484307-124484308	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557698690	chr5:124484362-124484363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200145535	chr5:124484390-124484391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200868706	chr5:124484391-124484392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201697470	chr5:124484392-124484393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200084502	chr5:124484395-124484396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201215182	chr5:124484396-124484397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575819194	chr5:124484460-124484461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543181424	chr5:124484476-124484477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78569309	chr5:124484481-124484482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530087130	chr5:124484493-124484494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541865122	chr5:124484530-124484531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115429033	chr5:124484536-124484537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528021281	chr5:124484547-124484548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76300686	chr5:124484561-124484562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12520570	chr5:124484570-124484571	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369694953	chr5:124484608-124484609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124471400-124484600	Weak transcription	HSMM	muscle
2	chr5:124477200-124488200	Weak transcription	HUVEC	blood vessel
3	chr5:124477400-124484600	Weak transcription	Adipose Nuclei	Adipose
4	chr5:124478800-124484200	Weak transcription	NHDF-Ad	bronchial
5	chr5:124483000-124484600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:124484000-124490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:124484200-124485400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:124484200-124485400	Enhancers	NHDF-Ad	bronchial
9	chr5:124484200-124486400	Enhancers	Fetal Stomach	stomach
10	chr5:124484400-124484800	Enhancers	HSMMtube	muscle
11	chr5:124484400-124486000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:124484600-124484800	Enhancers	Adipose Nuclei	Adipose
13	chr5:124484600-124485000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:124484600-124485200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:124484600-124485200	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links