Variant report

Variant	esv2521465
Chromosome Location	chr13:76909058-76910492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375160979	chr13:76909078-76909079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138907203	chr13:76909090-76909091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187081076	chr13:76909101-76909102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9565257	chr13:76909157-76909158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2018477	chr13:76909218-76909219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562305557	chr13:76909262-76909263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570926871	chr13:76909306-76909307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150249131	chr13:76909343-76909344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553431864	chr13:76909348-76909349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190811157	chr13:76909370-76909371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs924892	chr13:76909386-76909387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555690274	chr13:76909392-76909393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574225120	chr13:76909432-76909433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61963411	chr13:76909435-76909436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544939748	chr13:76909452-76909453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183421684	chr13:76909484-76909485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143316780	chr13:76909531-76909532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9565258	chr13:76909553-76909554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559626096	chr13:76909558-76909559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79298023	chr13:76909568-76909569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71203017	chr13:76909589-76909590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73543359	chr13:76909610-76909611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542762470	chr13:76909639-76909640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73229665	chr13:76909645-76909646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115095083	chr13:76909677-76909678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549652827	chr13:76909699-76909700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564866169	chr13:76909719-76909720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531979687	chr13:76909757-76909758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563551113	chr13:76909778-76909779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547032178	chr13:76909817-76909818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185851350	chr13:76909857-76909858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569343414	chr13:76909937-76909938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535966013	chr13:76909940-76909941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549523938	chr13:76909951-76909952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34357831	chr13:76909963-76909964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548849424	chr13:76909976-76909977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373933491	chr13:76909993-76909994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556873468	chr13:76910000-76910001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578261460	chr13:76910028-76910029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539025028	chr13:76910032-76910033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190510136	chr13:76910033-76910034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112964468	chr13:76910039-76910040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572475826	chr13:76910049-76910050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1156745	chr13:76910051-76910052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111979154	chr13:76910084-76910085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17066125	chr13:76910089-76910090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113786002	chr13:76910092-76910093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546868712	chr13:76910107-76910108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564831591	chr13:76910143-76910144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532282009	chr13:76910157-76910158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76899200-76911400	Weak transcription	Aorta	Aorta
2	chr13:76904200-76911600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:76905200-76912000	Weak transcription	Psoas Muscle	Psoas
4	chr13:76907000-76909400	Weak transcription	Fetal Stomach	stomach
5	chr13:76908400-76909200	Enhancers	Stomach Smooth Muscle	stomach
6	chr13:76908400-76911200	Weak transcription	Fetal Heart	heart
7	chr13:76909000-76909800	Enhancers	Colon Smooth Muscle	Colon
8	chr13:76909000-76910000	Enhancers	Rectal Smooth Muscle	rectum
9	chr13:76909400-76909800	Enhancers	Fetal Stomach	stomach
10	chr13:76909800-76911400	Weak transcription	Colon Smooth Muscle	Colon
11	chr13:76910000-76910200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:76910200-76912400	Enhancers	Rectal Smooth Muscle	rectum

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