Variant report

Variant	esv1002793
Chromosome Location	chr5:45518325-45528668
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	chr5:45038409..45039119-chr5:45520902..45521831,4	MCF-7	breast:
2	chr5:44952200..44952811-chr5:45521283..45521849,2	MCF-7	breast:

Extended variants
information (count: 381 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530794609	chr5:45518325-45518326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577092201	chr5:45518332-45518333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549384490	chr5:45518345-45518346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545647475	chr5:45518391-45518392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185154782	chr5:45518417-45518418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576007499	chr5:45518503-45518504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567857506	chr5:45518504-45518505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140299914	chr5:45518554-45518555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527276818	chr5:45518580-45518581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540651937	chr5:45518593-45518594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564410803	chr5:45518627-45518628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533693054	chr5:45518629-45518630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550063063	chr5:45518681-45518682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528824177	chr5:45518684-45518685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563906471	chr5:45518704-45518705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545832611	chr5:45518783-45518784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374757236	chr5:45518850-45518851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62369088	chr5:45518891-45518892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188874721	chr5:45518898-45518899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34786654	chr5:45518969-45518970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566207958	chr5:45519001-45519002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192457904	chr5:45519008-45519009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551816847	chr5:45519038-45519039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570616875	chr5:45519058-45519059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145203321	chr5:45519075-45519076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556231612	chr5:45519076-45519077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576177996	chr5:45519145-45519146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137887457	chr5:45519148-45519149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373822461	chr5:45519291-45519292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537041126	chr5:45519335-45519336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555429051	chr5:45519358-45519359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141063220	chr5:45519431-45519432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571829201	chr5:45519504-45519505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540589382	chr5:45519505-45519506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571512064	chr5:45519556-45519557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183926730	chr5:45519576-45519577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369657023	chr5:45519603-45519604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79092338	chr5:45519628-45519629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544090414	chr5:45519638-45519639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541629680	chr5:45519799-45519800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529491346	chr5:45519810-45519811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372401452	chr5:45519815-45519816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549621552	chr5:45519870-45519871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112113407	chr5:45519901-45519902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533217954	chr5:45519911-45519912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559854096	chr5:45519919-45519920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114450263	chr5:45519944-45519945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114992363	chr5:45520081-45520082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150166879	chr5:45520096-45520097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188266609	chr5:45520133-45520134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45518200-45518600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:45518600-45524000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:45520800-45521200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:45520800-45521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:45521000-45521400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:45521400-45521800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr5:45521400-45521800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr5:45524000-45524200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:45524200-45526400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:45525800-45532800	Weak transcription	Fetal Heart	heart
11	chr5:45526400-45526800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:45526400-45526800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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