Variant report

Variant	nsv462083
Chromosome Location	chr5:29254574-29327911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 826 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6450680	chr5:29254574-29254575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569005215	chr5:29254619-29254620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531973033	chr5:29254630-29254631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35082174	chr5:29254656-29254657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71899349	chr5:29254657-29254658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550395653	chr5:29254683-29254684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572014136	chr5:29254702-29254703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532862214	chr5:29254730-29254731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149665731	chr5:29254741-29254742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185429044	chr5:29254780-29254781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565958703	chr5:29254838-29254839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116788875	chr5:29254843-29254844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56359525	chr5:29254844-29254845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78565367	chr5:29254860-29254861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374749766	chr5:29254896-29254897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372962962	chr5:29254920-29254921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536891288	chr5:29254970-29254971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558320157	chr5:29254993-29254994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374926731	chr5:29255055-29255056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576583865	chr5:29255057-29255058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570949529	chr5:29255070-29255071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79460115	chr5:29255108-29255109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189742761	chr5:29255127-29255128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574384054	chr5:29255156-29255157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533538216	chr5:29255171-29255172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541790096	chr5:29255201-29255202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143140891	chr5:29255203-29255204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112066580	chr5:29255272-29255273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575404298	chr5:29255279-29255280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573975820	chr5:29255323-29255324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536510747	chr5:29255341-29255342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6862626	chr5:29255364-29255365	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75002176	chr5:29255368-29255369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6881646	chr5:29255380-29255381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73750014	chr5:29255473-29255474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147058404	chr5:29255481-29255482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572502433	chr5:29255499-29255500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148105180	chr5:29255500-29255501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181975497	chr5:29255528-29255529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569855033	chr5:29255531-29255532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537151605	chr5:29255541-29255542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552225028	chr5:29255562-29255563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570329604	chr5:29255573-29255574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534496003	chr5:29255593-29255594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10454837	chr5:29255642-29255643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577562889	chr5:29255673-29255674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541158196	chr5:29255676-29255677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10454851	chr5:29255685-29255686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535148359	chr5:29255740-29255741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556928243	chr5:29255748-29255749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29250400-29254800	Weak transcription	Hela-S3	cervix
2	chr5:29254800-29255000	Enhancers	Hela-S3	cervix
3	chr5:29255000-29255600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:29255000-29258600	Weak transcription	Hela-S3	cervix
5	chr5:29255200-29255400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:29255400-29257200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:29258600-29258800	Enhancers	Hela-S3	cervix
8	chr5:29258800-29259600	Weak transcription	Hela-S3	cervix
9	chr5:29259600-29262600	Enhancers	Hela-S3	cervix
10	chr5:29262200-29263000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:29262400-29262600	Enhancers	A549	lung
12	chr5:29262600-29263000	Flanking Active TSS	Hela-S3	cervix
13	chr5:29262600-29263400	Active TSS	A549	lung
14	chr5:29263000-29264000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:29263000-29264200	Enhancers	Hela-S3	cervix
16	chr5:29263400-29264000	Weak transcription	A549	lung
17	chr5:29264000-29264600	Enhancers	Fetal Muscle Leg	muscle
18	chr5:29264200-29264400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:29264200-29264400	Enhancers	A549	lung
20	chr5:29264200-29264600	Enhancers	Fetal Muscle Trunk	muscle
21	chr5:29264200-29264600	Flanking Active TSS	Hela-S3	cervix
22	chr5:29264600-29266200	Enhancers	Hela-S3	cervix
23	chr5:29276600-29277000	Enhancers	Hela-S3	cervix
24	chr5:29295200-29297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:29296600-29296800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:29304600-29305200	Enhancers	Hela-S3	cervix
27	chr5:29305200-29305600	Weak transcription	Hela-S3	cervix
28	chr5:29305600-29308400	Enhancers	Hela-S3	cervix

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