Variant report

Variant	esv3506135
Chromosome Location	chr4:62498024-62500395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571454038	chr4:62498076-62498077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182937711	chr4:62498110-62498111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565688983	chr4:62498122-62498123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34835787	chr4:62498138-62498139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187611396	chr4:62498148-62498149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192047509	chr4:62498198-62498199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184978324	chr4:62498222-62498223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543633595	chr4:62498249-62498250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558763885	chr4:62498258-62498259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187730621	chr4:62498267-62498268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545497797	chr4:62498388-62498389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142092337	chr4:62498421-62498422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527681261	chr4:62498469-62498470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145943308	chr4:62498480-62498481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561233965	chr4:62498500-62498501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116403004	chr4:62498522-62498523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147827016	chr4:62498553-62498554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193092006	chr4:62498604-62498605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532077519	chr4:62498643-62498644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373041089	chr4:62498665-62498666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565495160	chr4:62498703-62498704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536264141	chr4:62498758-62498759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184641151	chr4:62498774-62498775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536321833	chr4:62500220-62500221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554649871	chr4:62500264-62500265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145016684	chr4:62500288-62500289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367960090	chr4:62500332-62500333	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Multiple myeloma	16616336	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
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62498000-62498800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:62500200-62500400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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