Variant report

Variant	esv3357297
Chromosome Location	chr1:152266328-152270926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 363 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376860770	chr1:152266341-152266342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368668404	chr1:152266346-152266347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114081365	chr1:152266363-152266364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3126055	chr1:152266364-152266365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536566673	chr1:152266370-152266371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549738894	chr1:152266375-152266376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569746584	chr1:152266385-152266386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555471473	chr1:152266389-152266390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143190454	chr1:152266403-152266404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180784643	chr1:152266417-152266418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186221611	chr1:152266439-152266440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74495899	chr1:152266441-152266442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534715738	chr1:152266463-152266464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554763199	chr1:152266491-152266492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7514641	chr1:152266502-152266503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs3126056	chr1:152266503-152266504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148272002	chr1:152266511-152266512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74413441	chr1:152266514-152266515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577880414	chr1:152266515-152266516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545881722	chr1:152266517-152266518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559139653	chr1:152266544-152266545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528200784	chr1:152266554-152266555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190843793	chr1:152266556-152266557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545288013	chr1:152266563-152266564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561554696	chr1:152266568-152266569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530310251	chr1:152266595-152266596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3126057	chr1:152266619-152266620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563556987	chr1:152266631-152266632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141284632	chr1:152266664-152266665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373583291	chr1:152266679-152266680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538599421	chr1:152266708-152266709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552549369	chr1:152266709-152266710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566005315	chr1:152266734-152266735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183436840	chr1:152266742-152266743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115548193	chr1:152266747-152266748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574718703	chr1:152266751-152266752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537334232	chr1:152266779-152266780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557340828	chr1:152266805-152266806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185673095	chr1:152266807-152266808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545443296	chr1:152266852-152266853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542839511	chr1:152266918-152266919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559317686	chr1:152266998-152266999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572825371	chr1:152267047-152267048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541939414	chr1:152267060-152267061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561133290	chr1:152267066-152267067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75193440	chr1:152267094-152267095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76174455	chr1:152267100-152267101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78902369	chr1:152267107-152267108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78995886	chr1:152267108-152267109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76554182	chr1:152267115-152267116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Breast cancer	21611746	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
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152264200-152275400	Weak transcription	Ovary	ovary

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