Variant report

Variant	esv3449936
Chromosome Location	chr15:54277162-54277658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369106783	chr15:54277182-54277183	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370755380	chr15:54277195-54277196	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148544576	chr15:54277196-54277197	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142862056	chr15:54277240-54277241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184391559	chr15:54277248-54277249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564533359	chr15:54277278-54277279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111959741	chr15:54277294-54277295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139700618	chr15:54277316-54277317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190165530	chr15:54277322-54277323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143546567	chr15:54277365-54277366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548698082	chr15:54277371-54277372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146757153	chr15:54277385-54277386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531716529	chr15:54277435-54277436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193002141	chr15:54277447-54277448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571347360	chr15:54277462-54277463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567340254	chr15:54277478-54277479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200189141	chr15:54277528-54277529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548023578	chr15:54277546-54277547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567887260	chr15:54277554-54277555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12438683	chr15:54277562-54277563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556830674	chr15:54277571-54277572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568954877	chr15:54277626-54277627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537990214	chr15:54277632-54277633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151123382	chr15:54277633-54277634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184855909	chr15:54277636-54277637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54269200-54277200	Active TSS	Aorta	Aorta
2	chr15:54271800-54281200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:54277000-54283800	Weak transcription	Fetal Lung	lung
4	chr15:54277200-54277800	Weak transcription	Aorta	Aorta

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