Variant report

Variant	esv2593579
Chromosome Location	chr1:152323147-152324674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546045081	chr1:152323149-152323150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559109355	chr1:152323166-152323167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139767736	chr1:152323176-152323177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145104019	chr1:152323182-152323183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190841432	chr1:152323200-152323201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117998963	chr1:152323221-152323222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376710514	chr1:152323245-152323246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369042064	chr1:152323269-152323270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183397787	chr1:152323288-152323289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142283343	chr1:152323291-152323292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140628166	chr1:152323298-152323299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567121398	chr1:152323322-152323323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201036750	chr1:152323324-152323325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532713977	chr1:152323353-152323354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201988010	chr1:152323385-152323386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149170140	chr1:152323395-152323396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138450657	chr1:152323427-152323428	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150260227	chr1:152323433-152323434	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534734078	chr1:152323437-152323438	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377623201	chr1:152323440-152323441	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192946027	chr1:152323444-152323445	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554543735	chr1:152323447-152323448	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568245862	chr1:152323467-152323468	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149452137	chr1:152323497-152323498	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559596164	chr1:152323501-152323502	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75817593	chr1:152323542-152323543	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12736606	chr1:152323545-152323546	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150581091	chr1:152323551-152323552	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12732453	chr1:152323578-152323579	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12736623	chr1:152323579-152323580	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202147715	chr1:152323615-152323616	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149767135	chr1:152323638-152323639	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145035193	chr1:152323640-152323641	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146579981	chr1:152323642-152323643	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377218292	chr1:152323643-152323644	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143357607	chr1:152323650-152323651	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183803110	chr1:152323668-152323669	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187944122	chr1:152323696-152323697	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373724929	chr1:152323703-152323704	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199844397	chr1:152323704-152323705	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139340086	chr1:152323709-152323710	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35392577	chr1:152323742-152323743	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201200591	chr1:152323753-152323754	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200491021	chr1:152323776-152323777	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113396101	chr1:152323785-152323786	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140645128	chr1:152323793-152323794	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138607426	chr1:152323807-152323808	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146948893	chr1:152323822-152323823	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370034401	chr1:152323837-152323838	Strong transcription Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149503979	chr1:152323838-152323839	Strong transcription Weak transcription Active TSS Enhancers	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152312400-152323800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:152317400-152331200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:152322800-152324400	Strong transcription	Stomach Smooth Muscle	stomach
4	chr1:152322800-152342600	Weak transcription	Ovary	ovary
5	chr1:152323200-152324600	Weak transcription	Fetal Kidney	kidney
6	chr1:152323400-152324400	Active TSS	Brain Substantia Nigra	brain
7	chr1:152323600-152324000	Enhancers	Esophagus	oesophagus
8	chr1:152323600-152330800	Weak transcription	Right Ventricle	heart
9	chr1:152323800-152325200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:152324400-152325000	ZNF genes & repeats	Aorta	Aorta
11	chr1:152324400-152325600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
12	chr1:152324600-152324800	Strong transcription	Fetal Kidney	kidney
13	chr1:152324600-152327000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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