Variant report

Variant	esv2526295
Chromosome Location	chr13:37709754-37711280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572322112	chr13:37709802-37709803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535034736	chr13:37709876-37709877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17821416	chr13:37709913-37709914	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377093551	chr13:37709931-37709932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185072180	chr13:37709989-37709990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374746337	chr13:37710008-37710009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145456094	chr13:37710014-37710015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368187153	chr13:37710021-37710022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17054982	chr13:37710044-37710045	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574315583	chr13:37710066-37710067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369104670	chr13:37710086-37710087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372156750	chr13:37710100-37710101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142064038	chr13:37710145-37710146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527255374	chr13:37710152-37710153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151132926	chr13:37710178-37710179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573166276	chr13:37710240-37710241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114435302	chr13:37710246-37710247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533043496	chr13:37710262-37710263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540487789	chr13:37710274-37710275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561856291	chr13:37710292-37710293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189539024	chr13:37710325-37710326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74345935	chr13:37710376-37710377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529079005	chr13:37710395-37710396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569492972	chr13:37710492-37710493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559566228	chr13:37710519-37710520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568669658	chr13:37710532-37710533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529075905	chr13:37710547-37710548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375460172	chr13:37710550-37710551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548831553	chr13:37710604-37710605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565974559	chr13:37710625-37710626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115342590	chr13:37710689-37710690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77472144	chr13:37710708-37710709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558131109	chr13:37710723-37710724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201511633	chr13:37710725-37710726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537233854	chr13:37710755-37710756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537529934	chr13:37710756-37710757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55665330	chr13:37710837-37710838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112082939	chr13:37710846-37710847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369698251	chr13:37710849-37710850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17821470	chr13:37710852-37710853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553348422	chr13:37710881-37710882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9635075	chr13:37710886-37710887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573483177	chr13:37710928-37710929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373235869	chr13:37710952-37710953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545422677	chr13:37711017-37711018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377718322	chr13:37711042-37711043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369934383	chr13:37711139-37711140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140086413	chr13:37711154-37711155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563060895	chr13:37711212-37711213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533106246	chr13:37711214-37711215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Hodgkin''s lymphoma	18641027	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
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37707200-37711400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:37707600-37710200	Enhancers	Hela-S3	cervix
3	chr13:37707800-37710800	Enhancers	NH-A	brain
4	chr13:37708000-37710400	Enhancers	Osteobl	bone
5	chr13:37708200-37710800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:37708200-37714200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:37708400-37710200	Enhancers	Adipose Nuclei	Adipose
8	chr13:37708400-37714400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:37708800-37710600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:37709000-37710400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr13:37709200-37710000	Enhancers	Fetal Kidney	kidney
12	chr13:37709200-37710000	Weak transcription	NHDF-Ad	bronchial
13	chr13:37709200-37718200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:37709400-37709800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:37709400-37711400	Enhancers	HUVEC	blood vessel
16	chr13:37709400-37712200	Weak transcription	NHLF	lung
17	chr13:37709600-37712200	Weak transcription	Fetal Intestine Large	intestine
18	chr13:37709800-37710800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:37710000-37714000	Enhancers	NHDF-Ad	bronchial
20	chr13:37710200-37711200	Weak transcription	Adipose Nuclei	Adipose
21	chr13:37710200-37712200	Weak transcription	Hela-S3	cervix
22	chr13:37710400-37711800	Weak transcription	Osteobl	bone
23	chr13:37710800-37712400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:37710800-37713400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:37710800-37718000	Weak transcription	NH-A	brain
26	chr13:37711200-37712600	Enhancers	Adipose Nuclei	Adipose

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