Variant report

Variant	nsv598262
Chromosome Location	chr5:59486768-59496175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 319 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7717864	chr5:59486768-59486769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562478153	chr5:59486773-59486774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369785297	chr5:59486786-59486787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531315148	chr5:59486819-59486820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140775713	chr5:59486955-59486956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571200214	chr5:59486960-59486961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113817917	chr5:59487019-59487020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77173122	chr5:59487037-59487038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398084150	chr5:59487044-59487045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547147214	chr5:59487128-59487129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567137088	chr5:59487158-59487159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150672156	chr5:59487202-59487203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183783765	chr5:59487240-59487241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547212427	chr5:59487251-59487252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141094259	chr5:59487280-59487281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570094413	chr5:59487281-59487282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77990937	chr5:59487299-59487300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539022369	chr5:59487303-59487304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558686771	chr5:59487304-59487305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572738529	chr5:59487336-59487337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187926417	chr5:59487337-59487338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568414388	chr5:59487350-59487351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575064661	chr5:59487380-59487381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116888094	chr5:59487410-59487411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562594500	chr5:59487411-59487412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192997576	chr5:59487466-59487467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544940756	chr5:59487521-59487522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74714355	chr5:59487523-59487524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572196858	chr5:59487662-59487663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183774948	chr5:59487672-59487673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547308552	chr5:59487709-59487710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560874072	chr5:59487742-59487743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56726267	chr5:59487769-59487770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138304211	chr5:59487788-59487789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531607721	chr5:59487837-59487838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75654514	chr5:59487870-59487871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549760076	chr5:59487961-59487962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149228814	chr5:59487988-59487989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530032971	chr5:59488008-59488009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186625474	chr5:59488030-59488031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551009182	chr5:59488155-59488156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143338798	chr5:59488230-59488231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566101783	chr5:59488237-59488238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535047100	chr5:59488245-59488246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555285920	chr5:59488261-59488262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374789877	chr5:59488262-59488263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575071455	chr5:59488286-59488287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35052262	chr5:59488300-59488301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75688609	chr5:59488337-59488338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115026191	chr5:59488457-59488458	Weak transcription	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:50 , 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	chr5:59486400-59487000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:59487000-59491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:59491400-59493800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:59491600-59492000	Enhancers	A549	lung
9	chr5:59491600-59494000	Enhancers	Hela-S3	cervix
10	chr5:59491800-59492200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:59491800-59492400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:59491800-59492400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:59491800-59492600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:59491800-59492800	Enhancers	HMEC	breast
15	chr5:59491800-59493000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:59491800-59493200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:59492000-59492200	Active TSS	Osteobl	bone
18	chr5:59492000-59492400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:59492000-59492400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:59492000-59492800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:59492000-59492800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:59492000-59492800	Flanking Active TSS	A549	lung
23	chr5:59492000-59492800	Enhancers	HSMMtube	muscle
24	chr5:59492000-59492800	Enhancers	HUVEC	blood vessel
25	chr5:59492000-59492800	Enhancers	NH-A	brain
26	chr5:59492000-59492800	Enhancers	NHEK	skin
27	chr5:59492000-59493000	Enhancers	HSMM	muscle
28	chr5:59492200-59492400	Enhancers	Aorta	Aorta
29	chr5:59492200-59492400	Flanking Active TSS	Osteobl	bone
30	chr5:59492200-59492600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:59492200-59492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:59492200-59492800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:59492200-59493200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:59492400-59492800	Enhancers	Brain Hippocampus Middle	brain
35	chr5:59492400-59492800	Enhancers	Osteobl	bone
36	chr5:59492600-59493000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:59492600-59493000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:59492600-59493000	Enhancers	NHDF-Ad	bronchial
39	chr5:59492600-59494600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:59492600-59494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:59492800-59493200	Enhancers	A549	lung
42	chr5:59493000-59494400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:59493200-59493400	Flanking Active TSS	A549	lung
44	chr5:59493400-59493600	Enhancers	A549	lung
45	chr5:59493600-59493800	Flanking Active TSS	A549	lung
46	chr5:59493800-59498200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:59494000-59494400	Weak transcription	Hela-S3	cervix
48	chr5:59494400-59495200	Enhancers	Hela-S3	cervix
49	chr5:59494800-59495200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:59495200-59500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links