Variant report

Variant	nsv528214
Chromosome Location	chr1:119380928-119383818
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	chr1:119380401..119382538-chr1:119384866..119386528,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1338442	chr1:119380928-119380929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560236948	chr1:119380959-119380960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569963242	chr1:119380962-119380963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536932954	chr1:119380972-119380973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555603678	chr1:119380976-119380977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142356258	chr1:119381000-119381001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143858730	chr1:119381003-119381004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148695372	chr1:119381011-119381012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567372604	chr1:119381039-119381040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565446257	chr1:119381119-119381120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377736429	chr1:119381121-119381122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369144427	chr1:119381134-119381135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568932225	chr1:119381146-119381147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531521850	chr1:119381164-119381165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549517938	chr1:119381173-119381174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79126704	chr1:119381220-119381221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534466621	chr1:119381238-119381239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375949018	chr1:119381239-119381240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368924217	chr1:119381273-119381274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192352079	chr1:119381278-119381279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142239973	chr1:119381293-119381294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557964102	chr1:119381302-119381303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566981047	chr1:119381311-119381312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533922928	chr1:119381326-119381327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185574569	chr1:119381338-119381339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574362206	chr1:119381372-119381373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544927094	chr1:119381402-119381403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556756923	chr1:119381404-119381405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151215491	chr1:119381443-119381444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545630408	chr1:119381487-119381488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113448772	chr1:119381493-119381494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567256363	chr1:119381500-119381501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527416869	chr1:119381503-119381504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542225336	chr1:119381514-119381515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116654228	chr1:119381552-119381553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531460928	chr1:119381562-119381563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549655051	chr1:119381587-119381588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114305892	chr1:119381590-119381591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139709692	chr1:119381593-119381594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556007064	chr1:119381609-119381610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553861422	chr1:119381649-119381650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370670579	chr1:119381653-119381654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145222978	chr1:119381760-119381761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541873100	chr1:119381775-119381776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189252537	chr1:119381837-119381838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374334364	chr1:119381871-119381872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567675900	chr1:119381927-119381928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113681508	chr1:119381949-119381950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538285437	chr1:119381955-119381956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192291250	chr1:119381963-119381964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119378800-119385200	Weak transcription	Psoas Muscle	Psoas
2	chr1:119382800-119384200	Weak transcription	Fetal Muscle Leg	muscle

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