Variant report

Variant	nsv517603
Chromosome Location	chr4:81789570-81790211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1493182	chr4:81789570-81789571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559012444	chr4:81789596-81789597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528234627	chr4:81789603-81789604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544777942	chr4:81789614-81789615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564854464	chr4:81789625-81789626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186752487	chr4:81789641-81789642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138587243	chr4:81789711-81789712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55884021	chr4:81789744-81789745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368236209	chr4:81789749-81789750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529898333	chr4:81789813-81789814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370767052	chr4:81789839-81789840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142007079	chr4:81789940-81789941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145828402	chr4:81789963-81789964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566038820	chr4:81790045-81790046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71664822	chr4:81790051-81790052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs66667203	chr4:81790052-81790053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370828393	chr4:81790060-81790061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1027298	chr4:81790061-81790062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112054820	chr4:81790062-81790063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1027297	chr4:81790063-81790064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1027296	chr4:81790065-81790066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369760739	chr4:81790069-81790070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201813904	chr4:81790100-81790101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189658035	chr4:81790101-81790102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374536025	chr4:81790120-81790121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182097962	chr4:81790160-81790161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557980308	chr4:81790171-81790172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545156894	chr4:81790174-81790175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1027295	chr4:81790211-81790212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:78)

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
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
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
small cell lung cancer	20016488	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
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81788800-81791000	Enhancers	Ovary	ovary

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