Variant report

Variant	nsv1024281
Chromosome Location	chr5:53262337-53282335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53269403..53271866-chr5:53274016..53275996,2	MCF-7	breast:
2	chr5:53183179..53184756-chr5:53265484..53267930,2	K562	blood:
3	chr5:53269403..53271866-chr5:53274016..53275996,2	MCF-7	breast:
4	chr5:53279997..53282201-chr5:53282688..53284888,2	K562	blood:
5	chr5:53265520..53269231-chr5:53270939..53273836,4	K562	blood:
6	chr5:53265520..53269231-chr5:53270939..53273836,4	K562	blood:

Extended variants
information (count: 643 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570295966	chr5:53262340-53262341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190065033	chr5:53262344-53262345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113320122	chr5:53262378-53262379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566002160	chr5:53262393-53262394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539774735	chr5:53262435-53262436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561665721	chr5:53262496-53262497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577675294	chr5:53262504-53262505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565401619	chr5:53262532-53262533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538718526	chr5:53262540-53262541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553398986	chr5:53262664-53262665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150155476	chr5:53262772-53262773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539664893	chr5:53262788-53262789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182695772	chr5:53262822-53262823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574968414	chr5:53262866-53262867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560866025	chr5:53262885-53262886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576259510	chr5:53262937-53262938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543253720	chr5:53262950-53262951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369486916	chr5:53262971-53262972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187212859	chr5:53263016-53263017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57237674	chr5:53263031-53263032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1694104	chr5:53263103-53263104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559813192	chr5:53263148-53263149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532815303	chr5:53263210-53263211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375110614	chr5:53263303-53263304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6884926	chr5:53263304-53263305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576335372	chr5:53263422-53263423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3842043	chr5:53263423-53263424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76280182	chr5:53263428-53263429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570273571	chr5:53263468-53263469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377248807	chr5:53263484-53263485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138766709	chr5:53263525-53263526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192129981	chr5:53263587-53263588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552538445	chr5:53263671-53263672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369161257	chr5:53263710-53263711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373412566	chr5:53263734-53263735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553437985	chr5:53263905-53263906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555781832	chr5:53263912-53263913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571776394	chr5:53263953-53263954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76026733	chr5:53263963-53263964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373230770	chr5:53264008-53264009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554098458	chr5:53264025-53264026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576264942	chr5:53264031-53264032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541551421	chr5:53264047-53264048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17310156	chr5:53264063-53264064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10075461	chr5:53264073-53264074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs34429598	chr5:53264241-53264242	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs576943721	chr5:53264315-53264316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541571648	chr5:53264346-53264347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559901614	chr5:53264460-53264461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530187695	chr5:53264461-53264462	Weak transcription ZNF genes & repeats	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53239000-53271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:53253000-53265200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:53253600-53294800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:53255600-53264200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:53255600-53265800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:53255600-53268400	Weak transcription	Aorta	Aorta
7	chr5:53255600-53286200	Weak transcription	Fetal Intestine Large	intestine
8	chr5:53255800-53270800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:53256800-53310000	Weak transcription	Primary T cells from cord blood	blood
10	chr5:53258000-53274000	Weak transcription	K562	blood
11	chr5:53258400-53266600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:53259200-53276600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:53259400-53275800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:53260000-53266200	Weak transcription	NHDF-Ad	bronchial
15	chr5:53260400-53273400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:53261600-53264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:53261800-53264400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:53261800-53266400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:53261800-53267200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:53262000-53265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:53262600-53271600	Weak transcription	Pancreas	Pancrea
22	chr5:53264200-53264600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:53264600-53272600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:53265200-53265600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:53265600-53276400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:53265800-53268000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:53266200-53266800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:53266200-53266800	Enhancers	NHDF-Ad	bronchial
29	chr5:53266400-53267800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:53266600-53266800	Enhancers	Rectal Smooth Muscle	rectum
31	chr5:53266800-53267400	Weak transcription	NHDF-Ad	bronchial
32	chr5:53266800-53270000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:53267200-53267600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:53267400-53267600	Enhancers	NHDF-Ad	bronchial
35	chr5:53267400-53267800	Enhancers	Fetal Lung	lung
36	chr5:53267600-53267800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:53267800-53268000	Enhancers	Stomach Mucosa	stomach
38	chr5:53268000-53272000	Weak transcription	Stomach Mucosa	stomach
39	chr5:53270000-53270200	Enhancers	Left Ventricle	heart
40	chr5:53270000-53270400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:53270000-53270600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:53270200-53271200	Weak transcription	Gastric	stomach
43	chr5:53270600-53272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:53270800-53271400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:53270800-53271400	Enhancers	NHEK	skin
46	chr5:53270800-53272200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:53271000-53271600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:53271200-53271400	Enhancers	Esophagus	oesophagus
49	chr5:53271400-53271600	Enhancers	Gastric	stomach
50	chr5:53271600-53271800	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links