Variant report

Variant	esv3499353
Chromosome Location	chr13:38683110-38684462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567644001	chr13:38683136-38683137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536680292	chr13:38683153-38683154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547305469	chr13:38683169-38683170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567200759	chr13:38683170-38683171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561770043	chr13:38683215-38683216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538813494	chr13:38683233-38683234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559118620	chr13:38683239-38683240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577632386	chr13:38683240-38683241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536773614	chr13:38683244-38683245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7327086	chr13:38683247-38683248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181374393	chr13:38683300-38683301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550479513	chr13:38683305-38683306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111680472	chr13:38683313-38683314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7334407	chr13:38683347-38683348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573095627	chr13:38683411-38683412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544834882	chr13:38683515-38683516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76196470	chr13:38683578-38683579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530880283	chr13:38683588-38683589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185535043	chr13:38683613-38683614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201877434	chr13:38683656-38683657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36094667	chr13:38683659-38683660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200210030	chr13:38683669-38683670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201084827	chr13:38683692-38683693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139470079	chr13:38683845-38683846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560106878	chr13:38683872-38683873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547020285	chr13:38683873-38683874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8002950	chr13:38683896-38683897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113143719	chr13:38683901-38683902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552468302	chr13:38683920-38683921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569410228	chr13:38683984-38683985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143120572	chr13:38684000-38684001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146696777	chr13:38684024-38684025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189898142	chr13:38684041-38684042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556655235	chr13:38684044-38684045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182154123	chr13:38684058-38684059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367731268	chr13:38684061-38684062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35602588	chr13:38684084-38684085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186524759	chr13:38684088-38684089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201337019	chr13:38684122-38684123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199627342	chr13:38684123-38684124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373250087	chr13:38684124-38684125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71100352	chr13:38684134-38684135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545309333	chr13:38684145-38684146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72545564	chr13:38684159-38684160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4943561	chr13:38684160-38684161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575501823	chr13:38684169-38684170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140288564	chr13:38684209-38684210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4941886	chr13:38684239-38684240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34504367	chr13:38684264-38684265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145132271	chr13:38684310-38684311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38678800-38685000	Weak transcription	Pancreas	Pancrea
2	chr13:38682400-38685400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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