Variant report

Variant	nsv524694
Chromosome Location	chr5:53504764-53509186
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	chr5:53500570..53503274-chr5:53505428..53508274,2	K562	blood:
2	chr5:53508333..53510735-chr5:53512429..53514270,2	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4865809	chr5:53504764-53504765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570450250	chr5:53504792-53504793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531976307	chr5:53504799-53504800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550494586	chr5:53504824-53504825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565607828	chr5:53504858-53504859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551936430	chr5:53504895-53504896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34728138	chr5:53504908-53504909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547832280	chr5:53504939-53504940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62372181	chr5:53504948-53504949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557148335	chr5:53504981-53504982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185086776	chr5:53504987-53504988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548702792	chr5:53505001-53505002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567345722	chr5:53505010-53505011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372424173	chr5:53505017-53505018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75920750	chr5:53505077-53505078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79157595	chr5:53505078-53505079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77946048	chr5:53505080-53505081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75464236	chr5:53505082-53505083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78821777	chr5:53505083-53505084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577533955	chr5:53505095-53505096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538220369	chr5:53505129-53505130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190132046	chr5:53505154-53505155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148444344	chr5:53505163-53505164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371040123	chr5:53505164-53505165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78096847	chr5:53505165-53505166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576309861	chr5:53505166-53505167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75175978	chr5:53505171-53505172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36062807	chr5:53505184-53505185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34772612	chr5:53505186-53505187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549318980	chr5:53505200-53505201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369328526	chr5:53505205-53505206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372527857	chr5:53505243-53505244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192937027	chr5:53505248-53505249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144679306	chr5:53505275-53505276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184759950	chr5:53505286-53505287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544044295	chr5:53505312-53505313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569093760	chr5:53505346-53505347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189476173	chr5:53505454-53505455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532855927	chr5:53505471-53505472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547769914	chr5:53505496-53505497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139931307	chr5:53505497-53505498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530154769	chr5:53505513-53505514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145461120	chr5:53505515-53505516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139790359	chr5:53505522-53505523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180863603	chr5:53505523-53505524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531369475	chr5:53505585-53505586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570306066	chr5:53505629-53505630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62372182	chr5:53505654-53505655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537541880	chr5:53505706-53505707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185472531	chr5:53505725-53505726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53489400-53506600	Weak transcription	Aorta	Aorta
2	chr5:53498000-53509200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:53498400-53506600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:53498400-53510000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:53501400-53508200	Weak transcription	Pancreas	Pancrea
6	chr5:53502200-53507000	Weak transcription	Liver	Liver
7	chr5:53503400-53505200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:53503600-53507000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:53503600-53507000	Weak transcription	Left Ventricle	heart
10	chr5:53504000-53507000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:53504000-53507000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:53504000-53507800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:53504000-53508000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:53504000-53508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:53504000-53509200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:53504200-53506600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:53504200-53506800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:53504200-53508000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:53504200-53508000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:53505200-53506000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:53506000-53513200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:53506200-53506600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:53506200-53506600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:53506400-53506600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:53506400-53506600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:53506400-53506800	Enhancers	NHLF	lung
27	chr5:53506400-53506800	Enhancers	Osteobl	bone
28	chr5:53506400-53511600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:53506600-53506800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:53506600-53507000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:53506600-53507000	Active TSS	HSMMtube	muscle
32	chr5:53506600-53507000	Active TSS	NHDF-Ad	bronchial
33	chr5:53506600-53507200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:53506600-53507200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:53506600-53507200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:53506600-53507200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:53506600-53507200	Active TSS	Aorta	Aorta
38	chr5:53506600-53507200	Enhancers	HSMM	muscle
39	chr5:53506800-53507000	Enhancers	Fetal Heart	heart
40	chr5:53506800-53507000	Enhancers	A549	lung
41	chr5:53506800-53507200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:53506800-53507200	Enhancers	Fetal Kidney	kidney
43	chr5:53506800-53507200	Flanking Active TSS	NHLF	lung
44	chr5:53506800-53507200	Active TSS	Osteobl	bone
45	chr5:53506800-53514400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:53507000-53507200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:53507000-53507200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:53507000-53507200	Enhancers	Liver	Liver
49	chr5:53507000-53507200	Enhancers	Left Ventricle	heart
50	chr5:53507000-53507200	Enhancers	Sigmoid Colon	Sigmoid Colon

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