Variant report

Variant	esv13309
Chromosome Location	chr13:66746811-66759444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543875015	chr13:66755067-66755068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534618259	chr13:66755096-66755097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184691237	chr13:66755105-66755106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562188052	chr13:66755116-66755117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577911777	chr13:66755155-66755156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372238125	chr13:66755208-66755209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189829726	chr13:66755213-66755214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557222505	chr13:66755255-66755256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375636458	chr13:66755313-66755314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112055699	chr13:66755327-66755328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181286066	chr13:66755328-66755329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559907748	chr13:66755380-66755381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185918332	chr13:66755395-66755396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369866479	chr13:66755820-66755821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536453817	chr13:66755832-66755833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553161252	chr13:66755899-66755900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573326263	chr13:66755922-66755923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4605028	chr13:66755945-66755946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148095957	chr13:66755988-66755989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186173169	chr13:66756018-66756019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113873714	chr13:66756026-66756027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561252095	chr13:66756031-66756032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141881167	chr13:66756056-66756057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116016476	chr13:66756062-66756063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560519046	chr13:66756092-66756093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528219470	chr13:66756120-66756121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73203640	chr13:66756121-66756122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34875124	chr13:66756123-66756124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2093542	chr13:66756133-66756134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534054656	chr13:66756229-66756230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191024346	chr13:66756263-66756264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145065798	chr13:66756352-66756353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182865919	chr13:66756366-66756367	Enhancers	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
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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	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
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66755000-66755400	Enhancers	Aorta	Aorta
2	chr13:66755800-66756400	Enhancers	Skeletal Muscle Female	skeletal muscle

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