Variant report

Variant	esv3693142
Chromosome Location	chr13:38428276-38429697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs651451	chr13:38428276-38428277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377333531	chr13:38428340-38428341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189613877	chr13:38428352-38428353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542469383	chr13:38428375-38428376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180888082	chr13:38428424-38428425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528432077	chr13:38428426-38428427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185889741	chr13:38428427-38428428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565356477	chr13:38428438-38428439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568985922	chr13:38428443-38428444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116842722	chr13:38428504-38428505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138523387	chr13:38428529-38428530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370626063	chr13:38428535-38428536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559970323	chr13:38428577-38428578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535162038	chr13:38428589-38428590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192026418	chr13:38428606-38428607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536954408	chr13:38428617-38428618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7337288	chr13:38428667-38428668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557745906	chr13:38428682-38428683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114427263	chr13:38428703-38428704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181809405	chr13:38428747-38428748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577660036	chr13:38428768-38428769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370039353	chr13:38428798-38428799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536709251	chr13:38428807-38428808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557125326	chr13:38428811-38428812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573728455	chr13:38428835-38428836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542526560	chr13:38428863-38428864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186239767	chr13:38428871-38428872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557011776	chr13:38428892-38428893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190560926	chr13:38428906-38428907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544996382	chr13:38428907-38428908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149635406	chr13:38428941-38428942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531042050	chr13:38428972-38428973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544333014	chr13:38429021-38429022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561553024	chr13:38429055-38429056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1577876	chr13:38429073-38429074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs77118470	chr13:38429093-38429094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182848454	chr13:38429126-38429127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528133935	chr13:38429197-38429198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7320147	chr13:38429210-38429211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77658647	chr13:38429236-38429237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537174756	chr13:38429246-38429247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187950069	chr13:38429250-38429251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191269304	chr13:38429304-38429305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567484840	chr13:38429336-38429337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182590184	chr13:38429431-38429432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377732825	chr13:38429433-38429434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139637183	chr13:38429434-38429435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113712662	chr13:38429449-38429450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144291049	chr13:38429474-38429475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148729200	chr13:38429475-38429476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38421600-38430200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr13:38423800-38435800	Weak transcription	Osteobl	bone
3	chr13:38424000-38437000	Weak transcription	Ovary	ovary

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