Variant report

Variant	nsv598287
Chromosome Location	chr5:59492454-59500391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 269 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16877628	chr5:59492454-59492455	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116725579	chr5:59492460-59492461	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537092814	chr5:59492486-59492487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138953957	chr5:59492552-59492553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574216534	chr5:59492657-59492658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543328167	chr5:59492664-59492665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539786606	chr5:59492665-59492666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563066650	chr5:59492712-59492713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs191325073	chr5:59492724-59492725	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34068953	chr5:59492765-59492766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140650894	chr5:59492775-59492776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1966497	chr5:59492828-59492829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79852475	chr5:59492844-59492845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74590970	chr5:59492845-59492846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533060747	chr5:59492864-59492865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78186783	chr5:59492885-59492886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546576784	chr5:59492888-59492889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79394002	chr5:59492889-59492890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79679438	chr5:59492892-59492893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2910826	chr5:59492897-59492898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201360208	chr5:59492900-59492901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11740032	chr5:59492901-59492902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376124483	chr5:59492903-59492904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28759178	chr5:59492904-59492905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374170242	chr5:59492905-59492906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3989108	chr5:59492908-59492909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200980902	chr5:59492909-59492910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201891901	chr5:59492912-59492913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376449928	chr5:59492913-59492914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369736593	chr5:59492916-59492917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144365858	chr5:59492921-59492922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs70975372	chr5:59492924-59492925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147415346	chr5:59492925-59492926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565782447	chr5:59492929-59492930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145158608	chr5:59492945-59492946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144883368	chr5:59493014-59493015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116553509	chr5:59493055-59493056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557533171	chr5:59493088-59493089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571367856	chr5:59493131-59493132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558010998	chr5:59493144-59493145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553722476	chr5:59493165-59493166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183898947	chr5:59493257-59493258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576299040	chr5:59493263-59493264	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543778958	chr5:59493276-59493277	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs370589291	chr5:59493308-59493309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542689527	chr5:59493332-59493333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576360911	chr5:59493426-59493427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375109968	chr5:59493427-59493428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188718222	chr5:59493437-59493438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545568662	chr5:59493530-59493531	Weak transcription Enhancers	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59471600-59500800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59491400-59493800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59491600-59494000	Enhancers	Hela-S3	cervix
4	chr5:59491800-59492600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:59491800-59492800	Enhancers	HMEC	breast
6	chr5:59491800-59493000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:59491800-59493200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:59492000-59492800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:59492000-59492800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:59492000-59492800	Flanking Active TSS	A549	lung
11	chr5:59492000-59492800	Enhancers	HSMMtube	muscle
12	chr5:59492000-59492800	Enhancers	HUVEC	blood vessel
13	chr5:59492000-59492800	Enhancers	NH-A	brain
14	chr5:59492000-59492800	Enhancers	NHEK	skin
15	chr5:59492000-59493000	Enhancers	HSMM	muscle
16	chr5:59492200-59492600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:59492200-59492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:59492200-59492800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:59492200-59493200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:59492400-59492800	Enhancers	Brain Hippocampus Middle	brain
21	chr5:59492400-59492800	Enhancers	Osteobl	bone
22	chr5:59492600-59493000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:59492600-59493000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:59492600-59493000	Enhancers	NHDF-Ad	bronchial
25	chr5:59492600-59494600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:59492600-59494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:59492800-59493200	Enhancers	A549	lung
28	chr5:59493000-59494400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:59493200-59493400	Flanking Active TSS	A549	lung
30	chr5:59493400-59493600	Enhancers	A549	lung
31	chr5:59493600-59493800	Flanking Active TSS	A549	lung
32	chr5:59493800-59498200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:59494000-59494400	Weak transcription	Hela-S3	cervix
34	chr5:59494400-59495200	Enhancers	Hela-S3	cervix
35	chr5:59494800-59495200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:59495200-59500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:59496200-59498200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:59498200-59499000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:59498200-59499200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:59498200-59499800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr5:59498600-59499000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:59499000-59499200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr5:59499000-59504600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:59499200-59499400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr5:59499200-59501000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:59499400-59501800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:59499800-59500400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:59499800-59501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:59500000-59500200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:59500000-59500200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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