Variant report

Variant	esv3382740
Chromosome Location	chr5:54028912-54029450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54027207..54029848-chr5:54032087..54034780,2	K562	blood:
2	chr5:54022408..54025338-chr5:54027212..54029464,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111678096	chr5:54028940-54028941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555345819	chr5:54028997-54028998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201486564	chr5:54029109-54029110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573659175	chr5:54029140-54029141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs977209	chr5:54029142-54029143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140006984	chr5:54029144-54029145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578033788	chr5:54029181-54029182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535760552	chr5:54029182-54029183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113914053	chr5:54029232-54029233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186915308	chr5:54029251-54029252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139944843	chr5:54029301-54029302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564266192	chr5:54029313-54029314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573224453	chr5:54029322-54029323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78442541	chr5:54029331-54029332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs977208	chr5:54029398-54029399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
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
Cancer	16751803	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
2	chr5:54026200-54031600	Weak transcription	Fetal Heart	heart
3	chr5:54027400-54035800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:54029000-54029400	Enhancers	NHDF-Ad	bronchial
5	chr5:54029400-54031600	Weak transcription	NHDF-Ad	bronchial

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