Variant report

Variant	nsv820010
Chromosome Location	chr1:158726840-158728147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158651114..158653909-chr1:158727740..158729801,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558183004	chr1:158726868-158726869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2157693	chr1:158726875-158726876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113530366	chr1:158726905-158726906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566536093	chr1:158726925-158726926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7546637	chr1:158726953-158726954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550371387	chr1:158726954-158726955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562624844	chr1:158726961-158726962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370406851	chr1:158727008-158727009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189192461	chr1:158727027-158727028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73015534	chr1:158727088-158727089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534984443	chr1:158727155-158727156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552533855	chr1:158727175-158727176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145919483	chr1:158727176-158727177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148280605	chr1:158727179-158727180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111709330	chr1:158727184-158727185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192863111	chr1:158727210-158727211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542100883	chr1:158727224-158727225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527983904	chr1:158727258-158727259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201551171	chr1:158727316-158727317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202179839	chr1:158727338-158727339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184849608	chr1:158727358-158727359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190180033	chr1:158727375-158727376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140385982	chr1:158727396-158727397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150205011	chr1:158727539-158727540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576736954	chr1:158727567-158727568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4656416	chr1:158727594-158727595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181693154	chr1:158727610-158727611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376283818	chr1:158727666-158727667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529733631	chr1:158727706-158727707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538199629	chr1:158727744-158727745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547930510	chr1:158727756-158727757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12409510	chr1:158727774-158727775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561100548	chr1:158727778-158727779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528668873	chr1:158727817-158727818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546941197	chr1:158727851-158727852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571927541	chr1:158727852-158727853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538988132	chr1:158727857-158727858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550936300	chr1:158727906-158727907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569313359	chr1:158727916-158727917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201138268	chr1:158727945-158727946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398074350	chr1:158727946-158727947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397812947	chr1:158727947-158727948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536739259	chr1:158727972-158727973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78685598	chr1:158727976-158727977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555102056	chr1:158727979-158727980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573041597	chr1:158727993-158727994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138723148	chr1:158727994-158727995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367768097	chr1:158727995-158727996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113927224	chr1:158727997-158727998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577051508	chr1:158728001-158728002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
Invasive pancreatic ductal carcinoma	16982739	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	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158692600-158735200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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