Variant report

Variant	nsv598282
Chromosome Location	chr5:59490965-59493762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17384726	chr5:59490965-59490966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145016323	chr5:59490966-59490967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577167783	chr5:59491013-59491014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369306592	chr5:59491084-59491085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115385145	chr5:59491092-59491093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557949119	chr5:59491166-59491167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185510450	chr5:59491169-59491170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150943037	chr5:59491174-59491175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189582024	chr5:59491199-59491200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562028657	chr5:59491211-59491212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180928380	chr5:59491310-59491311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576439054	chr5:59491401-59491402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543716414	chr5:59491409-59491410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187113142	chr5:59491448-59491449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564157855	chr5:59491479-59491480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562916342	chr5:59491498-59491499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533420433	chr5:59491499-59491500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546870088	chr5:59491502-59491503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372547324	chr5:59491518-59491519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192449519	chr5:59491544-59491545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529438341	chr5:59491572-59491573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2409740	chr5:59491590-59491591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568017035	chr5:59491591-59491592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141084773	chr5:59491595-59491596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374483648	chr5:59491613-59491614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2961897	chr5:59491619-59491620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17384768	chr5:59491639-59491640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539467185	chr5:59491640-59491641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553285828	chr5:59491677-59491678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183405613	chr5:59491715-59491716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535284914	chr5:59491731-59491732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555538256	chr5:59491752-59491753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188854076	chr5:59491759-59491760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114404643	chr5:59491760-59491761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564270593	chr5:59491794-59491795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577599863	chr5:59491814-59491815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370614656	chr5:59491868-59491869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190660451	chr5:59491869-59491870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373914059	chr5:59491882-59491883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534009734	chr5:59491952-59491953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529594781	chr5:59491959-59491960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182538675	chr5:59491965-59491966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563112371	chr5:59492010-59492011	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570691595	chr5:59492031-59492032	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376865395	chr5:59492068-59492069	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs11742541	chr5:59492111-59492112	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570593381	chr5:59492139-59492140	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539429098	chr5:59492209-59492210	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187241257	chr5:59492216-59492217	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566723890	chr5:59492319-59492320	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59471600-59500800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59482000-59492000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:59483200-59492000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:59484400-59492200	Weak transcription	Aorta	Aorta
5	chr5:59487000-59491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:59491400-59493800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:59491600-59492000	Enhancers	A549	lung
8	chr5:59491600-59494000	Enhancers	Hela-S3	cervix
9	chr5:59491800-59492200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:59491800-59492400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:59491800-59492400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:59491800-59492600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:59491800-59492800	Enhancers	HMEC	breast
14	chr5:59491800-59493000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:59491800-59493200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:59492000-59492200	Active TSS	Osteobl	bone
17	chr5:59492000-59492400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:59492000-59492400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:59492000-59492800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:59492000-59492800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:59492000-59492800	Flanking Active TSS	A549	lung
22	chr5:59492000-59492800	Enhancers	HSMMtube	muscle
23	chr5:59492000-59492800	Enhancers	HUVEC	blood vessel
24	chr5:59492000-59492800	Enhancers	NH-A	brain
25	chr5:59492000-59492800	Enhancers	NHEK	skin
26	chr5:59492000-59493000	Enhancers	HSMM	muscle
27	chr5:59492200-59492400	Enhancers	Aorta	Aorta
28	chr5:59492200-59492400	Flanking Active TSS	Osteobl	bone
29	chr5:59492200-59492600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:59492200-59492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:59492200-59492800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:59492200-59493200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:59492400-59492800	Enhancers	Brain Hippocampus Middle	brain
34	chr5:59492400-59492800	Enhancers	Osteobl	bone
35	chr5:59492600-59493000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:59492600-59493000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:59492600-59493000	Enhancers	NHDF-Ad	bronchial
38	chr5:59492600-59494600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:59492600-59494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:59492800-59493200	Enhancers	A549	lung
41	chr5:59493000-59494400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:59493200-59493400	Flanking Active TSS	A549	lung
43	chr5:59493400-59493600	Enhancers	A549	lung
44	chr5:59493600-59493800	Flanking Active TSS	A549	lung

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