Variant report

Variant	esv3354392
Chromosome Location	chr4:95907879-95909027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557729806	chr4:95908611-95908612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577999663	chr4:95908621-95908622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183700885	chr4:95908642-95908643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533738454	chr4:95908653-95908654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553815811	chr4:95908670-95908671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368011642	chr4:95908714-95908715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77755105	chr4:95908759-95908760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9996993	chr4:95908760-95908761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562649178	chr4:95908811-95908812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554940840	chr4:95908840-95908841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189632374	chr4:95908841-95908842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140550459	chr4:95908842-95908843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372195590	chr4:95908845-95908846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533461570	chr4:95908846-95908847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374924962	chr4:95908848-95908849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117457264	chr4:95908877-95908878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559605777	chr4:95908892-95908893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560095045	chr4:95908903-95908904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374848281	chr4:95908907-95908908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201749119	chr4:95908918-95908919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529297572	chr4:95908939-95908940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549202262	chr4:95908947-95908948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192488976	chr4:95908949-95908950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528555570	chr4:95909017-95909018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95908600-95908800	Enhancers	A549	lung
2	chr4:95908800-95915400	Weak transcription	A549	lung

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