Variant report

Variant	esv3321849
Chromosome Location	chr1:153131728-153135926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146155714	chr1:153132800-153132801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544725830	chr1:153132804-153132805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527741412	chr1:153132823-153132824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373891043	chr1:153132840-153132841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76462393	chr1:153132859-153132860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561300564	chr1:153132879-153132880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188742037	chr1:153132958-153132959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531103	chr1:153132984-153132985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs374050188	chr1:153132993-153132994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386635561	chr1:153132994-153132995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531073	chr1:153132995-153132996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs75346464	chr1:153132996-153132997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116477335	chr1:153133021-153133022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534384049	chr1:153133031-153133032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191488612	chr1:153133032-153133033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574403250	chr1:153133065-153133066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536640682	chr1:153133074-153133075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112951761	chr1:153133080-153133081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71093261	chr1:153133084-153133085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556856595	chr1:153133102-153133103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35393428	chr1:153133123-153133124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546160	chr1:153133124-153133125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565453480	chr1:153133140-153133141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563589019	chr1:153133154-153133155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12403746	chr1:153133216-153133217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549513411	chr1:153133222-153133223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530152799	chr1:153133233-153133234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12402849	chr1:153133280-153133281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12403756	chr1:153133281-153133282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144778210	chr1:153133297-153133298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551974086	chr1:153133303-153133304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12406257	chr1:153133328-153133329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12403764	chr1:153133355-153133356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113016361	chr1:153133395-153133396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568054549	chr1:153133403-153133404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537059933	chr1:153133415-153133416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368438461	chr1:153133421-153133422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556953070	chr1:153133447-153133448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12406274	chr1:153133517-153133518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539306718	chr1:153133520-153133521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188117974	chr1:153133522-153133523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181019228	chr1:153133556-153133557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375798994	chr1:153133557-153133558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200705671	chr1:153133568-153133569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185603006	chr1:153133608-153133609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571653373	chr1:153133614-153133615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190527757	chr1:153133632-153133633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538974073	chr1:153133638-153133639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113794400	chr1:153133649-153133650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111387127	chr1:153133677-153133678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153132800-153137200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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