Variant report

Variant	esv1831414
Chromosome Location	chr13:39045401-39060049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39054749..39056526-chr13:39059043..39061059,2	MCF-7	breast:
2	chr13:39057074..39058739-chr13:39059031..39060761,2	MCF-7	breast:
3	chr13:39054749..39056526-chr13:39059043..39061059,2	MCF-7	breast:
4	chr13:39057074..39058739-chr13:39059031..39060761,2	MCF-7	breast:

Extended variants
information (count: 498 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549203913	chr13:39046207-39046208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369383694	chr13:39046292-39046293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545519423	chr13:39046338-39046339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565348908	chr13:39046342-39046343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35738307	chr13:39046457-39046458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530947555	chr13:39046470-39046471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10260313	chr13:39046492-39046493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11979294	chr13:39046517-39046518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550729980	chr13:39046558-39046559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370940803	chr13:39046559-39046560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9594275	chr13:39046561-39046562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs55808549	chr13:39046562-39046563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140352130	chr13:39046566-39046567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538820579	chr13:39046567-39046568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557447506	chr13:39046579-39046580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9594276	chr13:39046603-39046604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537127719	chr13:39046604-39046605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538692899	chr13:39046606-39046607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190151886	chr13:39046610-39046611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9548362	chr13:39046615-39046616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553255014	chr13:39046624-39046625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551009160	chr13:39046630-39046631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545187920	chr13:39046631-39046632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565053905	chr13:39046662-39046663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181791361	chr13:39046671-39046672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74579145	chr13:39046675-39046676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12583183	chr13:39046679-39046680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544686889	chr13:39046686-39046687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561138602	chr13:39046687-39046688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149072056	chr13:39046695-39046696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368080031	chr13:39046698-39046699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9548363	chr13:39046720-39046721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374934300	chr13:39046726-39046727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532652256	chr13:39046733-39046734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187224142	chr13:39046749-39046750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144653442	chr13:39046750-39046751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536786015	chr13:39046753-39046754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556977567	chr13:39046756-39046757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576326202	chr13:39046761-39046762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138441843	chr13:39046775-39046776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377370007	chr13:39046831-39046832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536223894	chr13:39046860-39046861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368431076	chr13:39046863-39046864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553316604	chr13:39046872-39046873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370689284	chr13:39046884-39046885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376588287	chr13:39046909-39046910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191977025	chr13:39046915-39046916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558514126	chr13:39046928-39046929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9576544	chr13:39046940-39046941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544383979	chr13:39046942-39046943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39046200-39061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:39051400-39052000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:39052400-39053000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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