Variant report

Variant	esv3491793
Chromosome Location	chr1:147390074-147390523
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:147383526..147385434-chr1:147389217..147390933,2	K562	blood:
2	chr1:147383934..147385482-chr1:147388298..147390717,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 148 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80110028	chr1:147390080-147390081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200335094	chr1:147390089-147390090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201302175	chr1:147390090-147390091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79891390	chr1:147390099-147390100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113395362	chr1:147390104-147390105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72702374	chr1:147390144-147390145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs66482556	chr1:147390164-147390165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201764192	chr1:147390165-147390166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587735043	chr1:147390168-147390169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587605401	chr1:147390198-147390199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182001484	chr1:147390204-147390205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587738438	chr1:147390225-147390226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587630403	chr1:147390234-147390235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112054916	chr1:147390251-147390252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372273331	chr1:147390254-147390255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587741165	chr1:147390269-147390270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587616083	chr1:147390270-147390271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28546886	chr1:147390302-147390303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367554591	chr1:147390317-147390318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187165713	chr1:147390325-147390326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201945972	chr1:147390345-147390346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587690555	chr1:147390353-147390354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587776058	chr1:147390375-147390376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146825380	chr1:147390389-147390390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139484951	chr1:147390393-147390394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144211333	chr1:147390403-147390404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191074545	chr1:147390404-147390405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182366659	chr1:147390410-147390411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587609012	chr1:147390411-147390412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186660432	chr1:147390414-147390415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189981470	chr1:147390419-147390420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372596316	chr1:147390420-147390421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587608060	chr1:147390448-147390449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145597730	chr1:147390458-147390459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182477563	chr1:147390459-147390460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148904597	chr1:147390460-147390461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587670469	chr1:147390461-147390462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79525074	chr1:147390463-147390464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75645859	chr1:147390505-147390506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:148)

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
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
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
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
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	20369283	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Melanoma	21430779	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Neuroblastoma	19536264	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147390000-147391200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:147390000-147400400	Weak transcription	HSMM	muscle

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