Variant report

Variant	esv2830156
Chromosome Location	chr5:151518058-151518810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:
2	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
3	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 86 )

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	rs6888953	chr5:151518058-151518059	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566325970	chr5:151518111-151518112	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570822517	chr5:151518134-151518135	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs256156	chr5:151518156-151518157	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147925053	chr5:151518180-151518181	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180704752	chr5:151518239-151518240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140537649	chr5:151518269-151518270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12187670	chr5:151518270-151518271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150461035	chr5:151518288-151518289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117403732	chr5:151518356-151518357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564117886	chr5:151518404-151518405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575584773	chr5:151518426-151518427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564955032	chr5:151518452-151518453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138305256	chr5:151518534-151518535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185281084	chr5:151518542-151518543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570395648	chr5:151518548-151518549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73274947	chr5:151518549-151518550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530527269	chr5:151518563-151518564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1428163	chr5:151518587-151518588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs919264	chr5:151518588-151518589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112363907	chr5:151518600-151518601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1428164	chr5:151518615-151518616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188461610	chr5:151518713-151518714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568799303	chr5:151518732-151518733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181214071	chr5:151518739-151518740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186494172	chr5:151518740-151518741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72804326	chr5:151518749-151518750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12522776	chr5:151518776-151518777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113439481	chr5:151518779-151518780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72804327	chr5:151518787-151518788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs256157	chr5:151518810-151518811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151515000-151518200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:151516400-151518600	Enhancers	Ovary	ovary
3	chr5:151517600-151518200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:151518200-151518600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:151518600-151531200	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links