Variant report

Variant	esv2320159
Chromosome Location	chr5:167072966-167073423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59553526	chr5:167073003-167073004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546413475	chr5:167073049-167073050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79717565	chr5:167073070-167073071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114156181	chr5:167073096-167073097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553302658	chr5:167073097-167073098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375993409	chr5:167073107-167073108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575186493	chr5:167073129-167073130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568760638	chr5:167073130-167073131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180840270	chr5:167073141-167073142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139410947	chr5:167073142-167073143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs70976441	chr5:167073162-167073163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57276571	chr5:167073172-167073173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57273762	chr5:167073183-167073184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151134199	chr5:167073184-167073185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2609853	chr5:167073201-167073202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369065089	chr5:167073205-167073206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557232394	chr5:167073211-167073212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61476810	chr5:167073235-167073236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73803918	chr5:167073245-167073246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569365755	chr5:167073317-167073318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561844931	chr5:167073401-167073402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575427049	chr5:167073414-167073415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	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
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	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
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167067200-167084200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:167072000-167073800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167072400-167079000	Weak transcription	HSMM	muscle

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