Variant report

Variant	esv2476633
Chromosome Location	chr13:76064673-76066024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367675000	chr13:76064700-76064701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60330695	chr13:76064708-76064709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397817657	chr13:76064711-76064712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12866375	chr13:76064712-76064713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201729762	chr13:76064713-76064714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558110327	chr13:76064725-76064726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79261020	chr13:76064726-76064727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183623667	chr13:76064731-76064732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112009706	chr13:76064786-76064787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562247534	chr13:76064825-76064826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186969450	chr13:76064848-76064849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151204452	chr13:76064853-76064854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576087053	chr13:76064864-76064865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76548089	chr13:76064867-76064868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563125970	chr13:76064883-76064884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191822693	chr13:76064887-76064888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543369868	chr13:76064890-76064891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150342595	chr13:76064920-76064921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527307728	chr13:76064929-76064930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138807578	chr13:76064987-76064988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559080948	chr13:76065033-76065034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141607089	chr13:76065162-76065163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372152886	chr13:76065187-76065188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34946953	chr13:76065190-76065191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1325463	chr13:76065214-76065215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183559336	chr13:76065229-76065230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188240838	chr13:76065254-76065255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147046930	chr13:76065267-76065268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575662836	chr13:76065290-76065291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117123945	chr13:76065339-76065340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536741719	chr13:76065351-76065352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555773554	chr13:76065395-76065396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77121643	chr13:76065399-76065400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544951918	chr13:76065455-76065456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138293648	chr13:76065493-76065494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578228290	chr13:76065498-76065499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574227118	chr13:76065534-76065535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370370268	chr13:76065548-76065549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34799761	chr13:76065553-76065554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs193034417	chr13:76065585-76065586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559508636	chr13:76065623-76065624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560595734	chr13:76065668-76065669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144127081	chr13:76065675-76065676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185727361	chr13:76065678-76065679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571074191	chr13:76065699-76065700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116589894	chr13:76065726-76065727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551811584	chr13:76065821-76065822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189808672	chr13:76065859-76065860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534351310	chr13:76065910-76065911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555779402	chr13:76065937-76065938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
lymphocytic leukemia	21291569	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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76057000-76064800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:76060600-76069400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:76063400-76065000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr13:76063400-76065000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:76063600-76065000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:76063800-76068400	Weak transcription	Spleen	Spleen
7	chr13:76064200-76067200	Weak transcription	Liver	Liver
8	chr13:76064400-76064800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:76064400-76067400	Weak transcription	Adipose Nuclei	Adipose
10	chr13:76064400-76069800	Weak transcription	HSMM	muscle
11	chr13:76064400-76069800	Weak transcription	HSMMtube	muscle
12	chr13:76064600-76065200	Enhancers	GM12878-XiMat	blood
13	chr13:76064600-76067000	Weak transcription	HepG2	liver
14	chr13:76064600-76069000	Weak transcription	Osteobl	bone
15	chr13:76064800-76070000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links