Variant report

Variant	esv3432666
Chromosome Location	chr13:64774001-64776099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568514015	chr13:64774034-64774035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9539979	chr13:64774045-64774046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113626430	chr13:64774054-64774055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556071423	chr13:64774069-64774070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574142905	chr13:64774077-64774078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7490606	chr13:64774103-64774104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9539980	chr13:64774115-64774116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578122968	chr13:64774144-64774145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545533712	chr13:64774158-64774159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188426614	chr13:64774161-64774162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145199059	chr13:64774165-64774166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549002421	chr13:64774168-64774169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367735512	chr13:64774174-64774175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555111813	chr13:64774212-64774213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561274260	chr13:64774259-64774260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528381058	chr13:64774325-64774326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534400140	chr13:64774349-64774350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148126178	chr13:64774377-64774378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386771770	chr13:64774397-64774398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1934925	chr13:64774411-64774412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550288939	chr13:64774417-64774418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192693259	chr13:64774424-64774425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375079272	chr13:64774467-64774468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536285995	chr13:64774541-64774542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138480876	chr13:64774565-64774566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141396524	chr13:64774614-64774615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1954178	chr13:64774617-64774618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544657010	chr13:64774644-64774645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369644297	chr13:64774689-64774690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184433613	chr13:64774694-64774695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549885952	chr13:64774695-64774696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545494774	chr13:64774704-64774705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9539981	chr13:64774757-64774758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575537412	chr13:64774846-64774847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13378558	chr13:64774856-64774857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368452820	chr13:64774861-64774862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199508817	chr13:64774862-64774863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202059687	chr13:64774863-64774864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71686436	chr13:64774864-64774865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59626799	chr13:64774893-64774894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9592337	chr13:64774935-64774936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561149131	chr13:64774965-64774966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145118093	chr13:64775002-64775003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540173744	chr13:64775007-64775008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564717160	chr13:64775013-64775014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7996387	chr13:64775049-64775050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532220948	chr13:64775061-64775062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148155548	chr13:64775063-64775064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568756710	chr13:64775074-64775075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552454072	chr13:64775123-64775124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64771200-64779600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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