Variant report

Variant	esv3336288
Chromosome Location	chr4:86070199-86070552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558379079	chr4:86070202-86070203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79620024	chr4:86070211-86070212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76143787	chr4:86070225-86070226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543888159	chr4:86070273-86070274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534461169	chr4:86070286-86070287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139150675	chr4:86070365-86070366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1316405	chr4:86070374-86070375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs149497752	chr4:86070375-86070376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573719877	chr4:86070377-86070378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556222091	chr4:86070417-86070418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182167538	chr4:86070444-86070445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545676049	chr4:86070475-86070476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86069200-86070600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:86069200-86070800	Weak transcription	NHEK	skin
3	chr4:86069400-86070400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:86069400-86070800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:86069400-86070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:86069600-86073000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:86069800-86074200	Enhancers	HSMM	muscle
8	chr4:86070000-86070200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr4:86070000-86073200	Enhancers	HSMMtube	muscle
10	chr4:86070400-86071200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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