Variant report

Variant	nsv328114
Chromosome Location	chr5:53357359-53361390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53358841..53360820-chr5:53606506..53608137,2	K562	blood:
2	chr5:53353265..53354821-chr5:53357587..53360122,2	K562	blood:
3	chr5:53360829..53362425-chr5:53363916..53365947,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs573743362	chr5:53357376-53357377	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544246255	chr5:53357387-53357388	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562443485	chr5:53357502-53357503	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200957249	chr5:53357571-53357572	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545275023	chr5:53357573-53357574	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560133142	chr5:53357589-53357590	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377614936	chr5:53357614-53357615	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527492982	chr5:53357625-53357626	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201941302	chr5:53357638-53357639	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114411442	chr5:53357646-53357647	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567445491	chr5:53357666-53357667	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562327028	chr5:53357713-53357714	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531672906	chr5:53357737-53357738	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190049178	chr5:53357745-53357746	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115727155	chr5:53357814-53357815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539010630	chr5:53357833-53357834	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554450263	chr5:53357851-53357852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566202564	chr5:53357907-53357908	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565371685	chr5:53357919-53357920	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112946706	chr5:53357935-53357936	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573806482	chr5:53357944-53357945	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6890486	chr5:53357977-53357978	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556233138	chr5:53358017-53358018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577561623	chr5:53358055-53358056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544641428	chr5:53358070-53358071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560415986	chr5:53358075-53358076	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181833336	chr5:53358161-53358162	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200782715	chr5:53358181-53358182	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571872025	chr5:53358201-53358202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186359500	chr5:53358217-53358218	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75096293	chr5:53358239-53358240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6874203	chr5:53358258-53358259	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs200246105	chr5:53358269-53358270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139215651	chr5:53358272-53358273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs156840	chr5:53358299-53358300	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570376316	chr5:53358307-53358308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191161471	chr5:53358330-53358331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77703980	chr5:53358343-53358344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71577097	chr5:53358347-53358348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559566999	chr5:53358348-53358349	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62370380	chr5:53358362-53358363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71619991	chr5:53358366-53358367	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182256481	chr5:53358449-53358450	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548831960	chr5:53358454-53358455	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144915300	chr5:53358490-53358491	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537984128	chr5:53358499-53358500	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6859259	chr5:53358531-53358532	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186131586	chr5:53358571-53358572	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6895649	chr5:53358597-53358598	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74421202	chr5:53358598-53358599	Enhancers Weak transcription Strong transcription	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
Chronic lymphocytic leukemia	21546498	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

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53316200-53387400	Weak transcription	Left Ventricle	heart
2	chr5:53337400-53359200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:53337400-53366400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:53340400-53359000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:53341600-53359200	Weak transcription	Right Ventricle	heart
6	chr5:53341800-53364400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:53343000-53368000	Weak transcription	Pancreas	Pancrea
8	chr5:53343600-53376400	Weak transcription	K562	blood
9	chr5:53346000-53358400	Weak transcription	Psoas Muscle	Psoas
10	chr5:53346000-53371200	Weak transcription	Aorta	Aorta
11	chr5:53346200-53363600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:53346400-53365600	Weak transcription	Fetal Stomach	stomach
13	chr5:53346600-53358000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:53347400-53358600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:53350200-53360400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:53351200-53358400	Weak transcription	NHEK	skin
17	chr5:53351600-53358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:53352200-53358800	Weak transcription	Primary T cells from cord blood	blood
19	chr5:53355200-53358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:53355800-53366400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:53356200-53359400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:53356400-53357800	Strong transcription	Fetal Intestine Small	intestine
23	chr5:53356600-53369200	Weak transcription	Fetal Lung	lung
24	chr5:53356800-53359000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:53357000-53357400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:53357000-53357800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:53357000-53357800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:53357000-53357800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:53357000-53358800	Weak transcription	Spleen	Spleen
30	chr5:53357000-53408000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:53357200-53357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:53357200-53357800	Enhancers	Right Atrium	heart
33	chr5:53357400-53363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:53357600-53357800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:53357600-53357800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:53357600-53358600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:53357600-53359000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:53357600-53359000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:53357600-53359200	Enhancers	NHDF-Ad	bronchial
40	chr5:53357600-53360200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:53357800-53359000	Weak transcription	Right Atrium	heart
42	chr5:53357800-53359200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:53357800-53359400	Enhancers	Fetal Heart	heart
44	chr5:53357800-53366000	Weak transcription	Fetal Intestine Small	intestine
45	chr5:53357800-53369600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:53358000-53358600	Enhancers	Osteobl	bone
47	chr5:53358000-53358800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:53358000-53360800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:53358200-53359200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:53358200-53359800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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