Variant report

Variant	esv3398245
Chromosome Location	chr1:120063629-120067827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 239 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587736702	chr1:120063637-120063638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587632607	chr1:120063693-120063694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189892120	chr1:120063713-120063714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10737751	chr1:120063754-120063755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112705863	chr1:120063787-120063788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587696508	chr1:120063842-120063843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587748523	chr1:120063878-120063879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193198575	chr1:120063904-120063905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77951006	chr1:120063911-120063912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587774049	chr1:120063914-120063915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368836778	chr1:120064002-120064003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72999154	chr1:120064012-120064013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587749444	chr1:120064019-120064020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587639405	chr1:120064024-120064025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189502899	chr1:120064061-120064062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587766880	chr1:120064062-120064063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180678417	chr1:120064085-120064086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183871694	chr1:120064094-120064095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201066155	chr1:120064123-120064124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111487987	chr1:120064124-120064125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139338658	chr1:120064161-120064162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201492876	chr1:120064166-120064167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188421385	chr1:120064228-120064229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181203489	chr1:120064232-120064233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142754145	chr1:120064277-120064278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587729415	chr1:120064284-120064285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587647894	chr1:120064293-120064294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587704921	chr1:120064316-120064317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374305247	chr1:120064335-120064336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75038241	chr1:120064342-120064343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587773972	chr1:120064363-120064364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587633750	chr1:120064364-120064365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587692319	chr1:120064374-120064375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587765088	chr1:120064375-120064376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113700191	chr1:120064429-120064430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587644506	chr1:120064441-120064442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587695428	chr1:120064443-120064444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587759573	chr1:120064444-120064445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186751818	chr1:120064453-120064454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587710486	chr1:120064498-120064499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147378131	chr1:120064527-120064528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139498827	chr1:120064538-120064539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76724394	chr1:120064565-120064566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191545226	chr1:120064571-120064572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371024469	chr1:120064574-120064575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587595948	chr1:120064578-120064579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374236275	chr1:120064587-120064588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77477859	chr1:120064589-120064590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2362813	chr1:120064608-120064609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs587655320	chr1:120064622-120064623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21760589	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120061400-120069000	Weak transcription	Placenta	Placenta

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