Variant report

Variant	esv3380571
Chromosome Location	chr13:61314513-61316518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567023770	chr13:61314535-61314536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534388372	chr13:61314547-61314548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559233423	chr13:61314548-61314549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376871088	chr13:61314608-61314609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6420327	chr13:61314638-61314639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538364769	chr13:61314700-61314701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4595694	chr13:61314716-61314717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574792237	chr13:61314734-61314735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4551927	chr13:61314739-61314740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142920883	chr13:61314748-61314749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4441158	chr13:61314767-61314768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151077062	chr13:61314775-61314776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370601083	chr13:61314792-61314793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572850838	chr13:61314793-61314794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183349546	chr13:61314796-61314797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528729345	chr13:61314797-61314798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71199022	chr13:61314825-61314826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71434946	chr13:61314828-61314829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548609023	chr13:61314841-61314842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532079516	chr13:61314845-61314846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74217336	chr13:61314847-61314848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71092702	chr13:61314896-61314897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373913520	chr13:61314897-61314898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9570353	chr13:61314898-61314899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7335255	chr13:61314912-61314913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529694631	chr13:61314941-61314942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71434947	chr13:61314943-61314944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4384510	chr13:61314948-61314949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71434948	chr13:61314966-61314967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9570354	chr13:61315031-61315032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9570355	chr13:61315054-61315055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113665355	chr13:61315055-61315056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71434949	chr13:61315062-61315063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12017196	chr13:61315145-61315146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111870914	chr13:61315342-61315343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553534334	chr13:61315358-61315359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201309169	chr13:61315379-61315380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543749569	chr13:61315396-61315397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199778805	chr13:61315466-61315467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200720895	chr13:61315566-61315567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201717703	chr13:61315595-61315596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111846632	chr13:61315615-61315616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113516694	chr13:61315731-61315732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112466208	chr13:61315796-61315797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540182619	chr13:61315873-61315874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567161176	chr13:61315883-61315884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528026717	chr13:61315884-61315885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199557039	chr13:61315932-61315933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192017589	chr13:61315976-61315977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145827518	chr13:61315985-61315986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	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
Non-small cell lung cancer	16651412	CNVD
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61314400-61314600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:61314600-61327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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