Variant report

Variant	nsv280013
Chromosome Location	chr4:74604551-74604551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 79 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397724457	chr4:74604551-74604552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74596400-74605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74596400-74606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:74598000-74605200	Weak transcription	Left Ventricle	heart
4	chr4:74600400-74605400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:74600400-74606200	Weak transcription	Primary B cells from cord blood	blood
6	chr4:74600600-74605200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:74600600-74606200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:74600800-74605400	Weak transcription	NH-A	brain
9	chr4:74600800-74605800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:74600800-74606200	Weak transcription	HMEC	breast
11	chr4:74601200-74605000	Weak transcription	Hela-S3	cervix
12	chr4:74601200-74605200	Weak transcription	Small Intestine	intestine
13	chr4:74601200-74605200	Weak transcription	NHLF	lung
14	chr4:74601200-74605400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:74601200-74605400	Weak transcription	Adipose Nuclei	Adipose
16	chr4:74601400-74605200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:74601400-74605600	Weak transcription	NHEK	skin
18	chr4:74601400-74606000	Weak transcription	Osteobl	bone
19	chr4:74601600-74604800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:74601600-74605400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:74601600-74605400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:74601600-74605600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:74601800-74604800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:74602000-74605400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr4:74602200-74605000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:74602400-74605400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:74602400-74605400	Weak transcription	A549	lung
28	chr4:74604400-74604800	Weak transcription	HUVEC	blood vessel
29	chr4:74604400-74605400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:74604400-74606000	Enhancers	K562	blood

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