Variant report

Variant	esv3374874
Chromosome Location	chr1:144038845-144042443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587603113	chr1:144038889-144038890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587662989	chr1:144038892-144038893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587736148	chr1:144039017-144039018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111936935	chr1:144039018-144039019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9439290	chr1:144039085-144039086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587663966	chr1:144039113-144039114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113992865	chr1:144039118-144039119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373773449	chr1:144039133-144039134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587730461	chr1:144039165-144039166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587624538	chr1:144039213-144039214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587683483	chr1:144039215-144039216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367800040	chr1:144039276-144039277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371550470	chr1:144039322-144039323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200201108	chr1:144039370-144039371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201504241	chr1:144039372-144039373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587761936	chr1:144039382-144039383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587626783	chr1:144039405-144039406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587690232	chr1:144039453-144039454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375042721	chr1:144039456-144039457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587762894	chr1:144039508-144039509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368415195	chr1:144039591-144039592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372606147	chr1:144039637-144039638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372012147	chr1:144039722-144039723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376668689	chr1:144039723-144039724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199632637	chr1:144040485-144040486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9743566	chr1:144041169-144041170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61822938	chr1:144041251-144041252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200364309	chr1:144041537-144041538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201540095	chr1:144041876-144041877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587644249	chr1:144041970-144041971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369949583	chr1:144042174-144042175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372767710	chr1:144042207-144042208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374764156	chr1:144042237-144042238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368240072	chr1:144042255-144042256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372434567	chr1:144042280-144042281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147665534	chr1:144042283-144042284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199530359	chr1:144042300-144042301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148216401	chr1:144042369-144042370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:159)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	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
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144019400-144048600	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:144029600-144039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:144029600-144044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:144029600-144044800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:144029600-144046600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:144029600-144060200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:144030200-144053000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:144034200-144054000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:144037600-144048400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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