Variant report

Variant	nsv511281
Chromosome Location	chr5:12808570-12834853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:12832982..12835873-chr5:12839996..12843088,3	K562	blood:
2	chr5:12810723..12813220-chr5:12814346..12816159,2	MCF-7	breast:
3	chr5:12815455..12818211-chr5:12818393..12820982,3	MCF-7	breast:
4	chr5:12833534..12837794-chr5:12838880..12843037,3	MCF-7	breast:
5	chr5:12794344..12796084-chr5:12809073..12810960,2	MCF-7	breast:
6	chr5:12810723..12813220-chr5:12814346..12816159,2	MCF-7	breast:
7	chr5:12815455..12818211-chr5:12818393..12820982,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249053	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144450041	chr5:12809089-12809090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148395243	chr5:12809134-12809135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377589033	chr5:12809145-12809146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547801356	chr5:12809174-12809175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566048017	chr5:12809221-12809222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190294956	chr5:12809263-12809264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551848383	chr5:12809290-12809291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142564573	chr5:12809331-12809332	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34760755	chr5:12809373-12809374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397884177	chr5:12809377-12809378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201527933	chr5:12809378-12809379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199622821	chr5:12809379-12809380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113930400	chr5:12809382-12809383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537163754	chr5:12809387-12809388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111947202	chr5:12809402-12809403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4582272	chr5:12809403-12809404	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567943558	chr5:12809450-12809451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543486288	chr5:12809474-12809475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140399760	chr5:12809565-12809566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557434162	chr5:12809598-12809599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192870497	chr5:12809631-12809632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144852405	chr5:12809649-12809650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147926281	chr5:12809701-12809702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557793778	chr5:12809708-12809709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571987310	chr5:12809710-12809711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199784731	chr5:12809712-12809713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184990939	chr5:12809714-12809715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562243118	chr5:12809715-12809716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559687880	chr5:12809726-12809727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368334465	chr5:12809731-12809732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145197644	chr5:12809771-12809772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559840994	chr5:12809795-12809796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149128423	chr5:12809804-12809805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551328056	chr5:12809823-12809824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372034089	chr5:12809829-12809830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs62350127	chr5:12809850-12809851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4464687	chr5:12809853-12809854	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188532959	chr5:12809874-12809875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530891315	chr5:12809926-12809927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34041755	chr5:12809933-12809934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549103443	chr5:12810069-12810070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567906964	chr5:12810088-12810089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180998052	chr5:12810105-12810106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367949264	chr5:12810106-12810107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200998574	chr5:12810221-12810222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111402151	chr5:12810258-12810259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143669454	chr5:12810259-12810260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10656059	chr5:12810261-12810262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185117155	chr5:12810270-12810271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558415338	chr5:12810301-12810302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
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
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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12826600-12827000	Active TSS	Fetal Heart	heart
2	chr5:12833400-12833800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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