Variant report

Variant	esv3344541
Chromosome Location	chr13:38682502-38685400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567916664	chr13:38682513-38682514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530251593	chr13:38682526-38682527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536960584	chr13:38682531-38682532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553731903	chr13:38682534-38682535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543407263	chr13:38682550-38682551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573342789	chr13:38682560-38682561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545624332	chr13:38682577-38682578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117857756	chr13:38682578-38682579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532416195	chr13:38682603-38682604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552484186	chr13:38682616-38682617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542976563	chr13:38682645-38682646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562962076	chr13:38682668-38682669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377623228	chr13:38682675-38682676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181869117	chr13:38682746-38682747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142837471	chr13:38682823-38682824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371011403	chr13:38682904-38682905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186939036	chr13:38682908-38682909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528260766	chr13:38682936-38682937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551598541	chr13:38682942-38682943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112895565	chr13:38682950-38682951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541929621	chr13:38682960-38682961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200227944	chr13:38682961-38682962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575317000	chr13:38682967-38682968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112948145	chr13:38682972-38682973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565186545	chr13:38682997-38682998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540280035	chr13:38683028-38683029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561729061	chr13:38683060-38683061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550958278	chr13:38683069-38683070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528292851	chr13:38683074-38683075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191375882	chr13:38683090-38683091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567644001	chr13:38683136-38683137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536680292	chr13:38683153-38683154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547305469	chr13:38683169-38683170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567200759	chr13:38683170-38683171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561770043	chr13:38683215-38683216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538813494	chr13:38683233-38683234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559118620	chr13:38683239-38683240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577632386	chr13:38683240-38683241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536773614	chr13:38683244-38683245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7327086	chr13:38683247-38683248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181374393	chr13:38683300-38683301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550479513	chr13:38683305-38683306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111680472	chr13:38683313-38683314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7334407	chr13:38683347-38683348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573095627	chr13:38683411-38683412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544834882	chr13:38683515-38683516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76196470	chr13:38683578-38683579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530880283	chr13:38683588-38683589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185535043	chr13:38683613-38683614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201877434	chr13:38683656-38683657	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:5 , 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
3	chr13:38684800-38685600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr13:38685000-38685200	ZNF genes & repeats	Pancreas	Pancrea
5	chr13:38685200-38685600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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