Variant report

Variant	esv3466572
Chromosome Location	chr4:165982376-165982567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573005315	chr4:165982388-165982389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540376129	chr4:165982389-165982390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4691147	chr4:165982398-165982399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376957589	chr4:165982409-165982410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529283476	chr4:165982517-165982518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6536888	chr4:165982540-165982541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371101711	chr4:165982541-165982542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5863739	chr4:165982557-165982558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs5863740	chr4:165982566-165982567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165973600-165987000	Weak transcription	Right Atrium	heart
2	chr4:165979000-166005600	Weak transcription	Pancreas	Pancrea
3	chr4:165979200-165995000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:165980400-166000400	Weak transcription	Brain Angular Gyrus	brain
5	chr4:165980600-166005800	Weak transcription	Aorta	Aorta
6	chr4:165980600-166007000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:165981000-165996800	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:165981000-165997400	Weak transcription	Brain Anterior Caudate	brain
9	chr4:165981000-165999000	Weak transcription	Brain Substantia Nigra	brain
10	chr4:165981600-165982600	Enhancers	HSMMtube	muscle
11	chr4:165981800-165982800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:165982000-166000400	Weak transcription	Ovary	ovary
13	chr4:165982200-165983200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:165982200-166000400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:165982400-165982600	Enhancers	HSMM	muscle

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