Variant report

Variant	nsv528391
Chromosome Location	chr5:58396248-58399201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2910641	chr5:58396248-58396249	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532286099	chr5:58396254-58396255	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571893004	chr5:58396258-58396259	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77118120	chr5:58396364-58396365	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77273899	chr5:58396372-58396373	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536751391	chr5:58396402-58396403	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180713127	chr5:58396463-58396464	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74493118	chr5:58396479-58396480	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115325238	chr5:58396498-58396499	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116776592	chr5:58396511-58396512	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558615649	chr5:58396513-58396514	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577061301	chr5:58396575-58396576	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372995972	chr5:58396655-58396656	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185968207	chr5:58396672-58396673	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553137093	chr5:58396722-58396723	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147004240	chr5:58396752-58396753	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554921897	chr5:58396782-58396783	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547410225	chr5:58396812-58396813	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574921574	chr5:58396833-58396834	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545773696	chr5:58396879-58396880	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565486690	chr5:58396894-58396895	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6898374	chr5:58396902-58396903	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547731310	chr5:58396903-58396904	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560001853	chr5:58397025-58397026	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114655401	chr5:58397029-58397030	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548725123	chr5:58397047-58397048	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116544278	chr5:58397091-58397092	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537093199	chr5:58397178-58397179	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6894694	chr5:58397242-58397243	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570711035	chr5:58397243-58397244	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148072405	chr5:58397277-58397278	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190620863	chr5:58397284-58397285	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs207466062	chr5:58397343-58397344	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574314124	chr5:58397358-58397359	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75454959	chr5:58397432-58397433	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182293900	chr5:58397451-58397452	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575294449	chr5:58397479-58397480	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368130000	chr5:58397537-58397538	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77506140	chr5:58397550-58397551	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185797888	chr5:58397645-58397646	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190602265	chr5:58397664-58397665	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572714365	chr5:58397673-58397674	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143733754	chr5:58397677-58397678	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565296793	chr5:58397704-58397705	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185322763	chr5:58397742-58397743	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530349820	chr5:58397755-58397756	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576910262	chr5:58397782-58397783	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548793227	chr5:58397784-58397785	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75271806	chr5:58397798-58397799	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531039822	chr5:58397830-58397831	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	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
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58391800-58398800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:58392000-58398400	Weak transcription	Left Ventricle	heart
3	chr5:58392000-58400400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:58392000-58400600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:58392400-58399200	Weak transcription	Small Intestine	intestine
6	chr5:58392400-58400400	Weak transcription	Fetal Stomach	stomach
7	chr5:58392800-58396400	Enhancers	Fetal Intestine Small	intestine
8	chr5:58393400-58398400	Weak transcription	Fetal Heart	heart
9	chr5:58393600-58398400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:58393800-58398600	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:58393800-58398600	Weak transcription	Fetal Lung	lung
12	chr5:58393800-58399200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:58394000-58396400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:58394200-58397000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:58394200-58397200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr5:58394400-58397000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:58394400-58397400	Enhancers	Hela-S3	cervix
18	chr5:58394600-58396600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:58394600-58396800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:58394600-58397600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:58395000-58396800	Enhancers	Primary T cells from cord blood	blood
22	chr5:58395000-58396800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr5:58395400-58400400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:58395400-58400600	Weak transcription	NHLF	lung
25	chr5:58395600-58396400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:58395600-58399000	Weak transcription	Fetal Thymus	thymus
27	chr5:58395600-58403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:58395800-58396600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:58395800-58399000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:58395800-58400600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:58395800-58400600	Weak transcription	NHEK	skin
32	chr5:58395800-58403800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:58396000-58399000	Genic enhancers	A549	lung
34	chr5:58396000-58399600	Weak transcription	Psoas Muscle	Psoas
35	chr5:58396000-58400400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:58396000-58400400	Weak transcription	Osteobl	bone
37	chr5:58396000-58400600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:58396000-58402200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:58396200-58398800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:58396200-58400400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr5:58396200-58400800	Weak transcription	Stomach Mucosa	stomach
42	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:58396400-58398800	Weak transcription	Fetal Intestine Small	intestine
44	chr5:58396400-58400400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:58396400-58400400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:58396400-58400600	Weak transcription	Thymus	Thymus
47	chr5:58396600-58397000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:58396800-58398600	Weak transcription	Primary T cells from cord blood	blood
49	chr5:58396800-58400400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:58396800-58400600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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