Variant report

Variant	nsv523257
Chromosome Location	chr1:159581387-159582218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2121479	chr1:159581387-159581388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559949992	chr1:159581404-159581405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562173450	chr1:159581406-159581407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527385388	chr1:159581424-159581425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73020724	chr1:159581435-159581436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570150787	chr1:159581468-159581469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532648075	chr1:159581473-159581474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140718692	chr1:159581487-159581488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569551921	chr1:159581533-159581534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536406000	chr1:159581534-159581535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555150192	chr1:159581550-159581551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367956027	chr1:159581555-159581556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539060263	chr1:159581576-159581577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185546879	chr1:159581610-159581611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189960557	chr1:159581646-159581647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544638441	chr1:159581659-159581660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557299868	chr1:159581667-159581668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144370993	chr1:159581689-159581690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574684157	chr1:159581741-159581742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113383891	chr1:159581745-159581746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181575082	chr1:159581787-159581788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186545366	chr1:159581813-159581814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541611858	chr1:159581841-159581842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539994144	chr1:159581857-159581858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560338654	chr1:159581860-159581861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2592890	chr1:159581863-159581864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545524985	chr1:159581881-159581882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1446973	chr1:159581937-159581938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573776177	chr1:159581977-159581978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74122955	chr1:159581985-159581986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552221907	chr1:159582001-159582002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191821685	chr1:159582021-159582022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2808640	chr1:159582026-159582027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530472329	chr1:159582027-159582028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184060721	chr1:159582038-159582039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2794502	chr1:159582055-159582056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs534263694	chr1:159582064-159582065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112279451	chr1:159582065-159582066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548440720	chr1:159582071-159582072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60492138	chr1:159582074-159582075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538201367	chr1:159582087-159582088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114782894	chr1:159582101-159582102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10494331	chr1:159582103-159582104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs2794503	chr1:159582198-159582199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs553667049	chr1:159582213-159582214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111400683	chr1:159582214-159582215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4233355	chr1:159582218-159582219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:110)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19602461	CNVD
Lung adenocarcinoma	21935476	CNVD
Pheochromocytoma	19223516	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159580800-159583400	Weak transcription	Liver	Liver

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