Variant report

Variant	nsv522765
Chromosome Location	chr1:187320698-187327396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541854653	chr1:187326803-187326804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560424327	chr1:187326840-187326841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12117646	chr1:187326852-187326853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs207460782	chr1:187326889-187326890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545664345	chr1:187326905-187326906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563944430	chr1:187326909-187326910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34181399	chr1:187326917-187326918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76167136	chr1:187326944-187326945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138868902	chr1:187326956-187326957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181357603	chr1:187326989-187326990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528914084	chr1:187327013-187327014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547065602	chr1:187327023-187327024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565633964	chr1:187327024-187327025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76274446	chr1:187327040-187327041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552856223	chr1:187327058-187327059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571063144	chr1:187327122-187327123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538430595	chr1:187327123-187327124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556664260	chr1:187327154-187327155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184663417	chr1:187327155-187327156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189602000	chr1:187327181-187327182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79293453	chr1:187327208-187327209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180933484	chr1:187327269-187327270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545703028	chr1:187327274-187327275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142890883	chr1:187327329-187327330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2802475	chr1:187327396-187327397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:187326800-187329400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:187327200-187327600	Enhancers	H9 Cell Line	embryonic stem cell

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