Variant report

Variant	nsv980932
Chromosome Location	chr5:15289099-15310139
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	chr5:15277630..15279187-chr5:15298085..15299619,2	K562	blood:

Extended variants
information (count: 198 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs528124548	chr5:15289113-15289114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374874531	chr5:15289125-15289126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144865070	chr5:15289140-15289141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534816892	chr5:15289155-15289156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184507594	chr5:15289159-15289160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528273410	chr5:15289189-15289190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140074923	chr5:15289199-15289200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550771857	chr5:15289200-15289201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144002701	chr5:15289202-15289203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529898492	chr5:15289250-15289251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370198748	chr5:15289268-15289269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549527073	chr5:15289298-15289299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567758656	chr5:15289308-15289309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77257556	chr5:15289411-15289412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535057852	chr5:15289478-15289479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147260075	chr5:15289479-15289480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571931513	chr5:15289498-15289499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538930479	chr5:15289511-15289512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2577987	chr5:15289517-15289518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140841019	chr5:15289521-15289522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116800590	chr5:15289545-15289546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188953872	chr5:15289555-15289556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61584748	chr5:15289566-15289567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369202222	chr5:15289584-15289585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73064098	chr5:15300009-15300010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577151618	chr5:15300034-15300035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544382972	chr5:15300052-15300053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563777066	chr5:15300085-15300086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188002907	chr5:15300099-15300100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191363050	chr5:15300124-15300125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561362884	chr5:15300125-15300126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566787153	chr5:15300146-15300147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373400360	chr5:15300179-15300180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148973172	chr5:15300203-15300204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546929291	chr5:15300223-15300224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77959858	chr5:15300247-15300248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75673700	chr5:15300304-15300305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74631732	chr5:15300311-15300312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116550792	chr5:15300331-15300332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536378235	chr5:15300353-15300354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375541333	chr5:15300358-15300359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547958512	chr5:15300380-15300381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573928610	chr5:15300398-15300399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376874243	chr5:15300420-15300421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537534673	chr5:15300458-15300459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370863633	chr5:15300502-15300503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77629925	chr5:15300511-15300512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558902173	chr5:15300523-15300524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577163663	chr5:15300527-15300528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540888145	chr5:15300529-15300530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15286200-15289600	Enhancers	Fetal Lung	lung
2	chr5:15288600-15289600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:15300000-15300400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:15300400-15300600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:15300600-15301400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:15302600-15303000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:15303400-15304200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:15304000-15304400	Enhancers	Gastric	stomach
9	chr5:15304000-15305600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:15304200-15305600	Enhancers	Fetal Heart	heart
11	chr5:15304400-15306200	Enhancers	Liver	Liver
12	chr5:15305000-15305400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:15305200-15306000	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links