Variant report

Variant	esv3323815
Chromosome Location	chr1:152267528-152272226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 362 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:362 , 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	rs144866194	chr1:152267542-152267543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537296666	chr1:152267552-152267553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148584150	chr1:152267560-152267561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549159012	chr1:152267564-152267565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182550572	chr1:152267565-152267566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11801344	chr1:152267593-152267594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370063771	chr1:152267600-152267601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6662878	chr1:152267614-152267615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142771955	chr1:152267617-152267618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34162934	chr1:152267625-152267626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11802448	chr1:152267626-152267627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577995549	chr1:152267633-152267634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539364235	chr1:152267668-152267669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547933468	chr1:152267673-152267674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553188336	chr1:152267680-152267681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566653572	chr1:152267707-152267708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146600651	chr1:152267708-152267709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554929899	chr1:152267720-152267721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141335622	chr1:152267750-152267751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543876286	chr1:152267755-152267756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557148562	chr1:152267758-152267759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577327753	chr1:152267759-152267760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6698994	chr1:152267788-152267789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560041473	chr1:152267790-152267791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528770159	chr1:152267867-152267868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542276770	chr1:152267869-152267870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562039545	chr1:152267875-152267876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531046541	chr1:152267877-152267878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551058194	chr1:152267879-152267880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11204974	chr1:152267889-152267890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533203817	chr1:152267929-152267930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546471010	chr1:152267932-152267933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566794249	chr1:152267938-152267939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535344063	chr1:152267940-152267941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548592194	chr1:152267953-152267954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568480258	chr1:152267954-152267955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140470484	chr1:152267977-152267978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557385266	chr1:152267979-152267980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6683653	chr1:152268004-152268005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs540065914	chr1:152268016-152268017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553274944	chr1:152268022-152268023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573507544	chr1:152268048-152268049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192360310	chr1:152268054-152268055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375129005	chr1:152268072-152268073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562078889	chr1:152268109-152268110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138666279	chr1:152268110-152268111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544718284	chr1:152268123-152268124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564647108	chr1:152268170-152268171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141415654	chr1:152268208-152268209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184955373	chr1:152268243-152268244	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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