Variant report

Variant	esv2347607
Chromosome Location	chr15:53983666-53984067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567976997	chr15:53983673-53983674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56382237	chr15:53983728-53983729	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575162367	chr15:53983794-53983795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140193304	chr15:53983797-53983798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537762451	chr15:53983813-53983814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201198526	chr15:53983814-53983815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74365334	chr15:53983817-53983818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71746507	chr15:53983818-53983819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs689766	chr15:53983821-53983822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112488070	chr15:53983825-53983826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71474847	chr15:53983829-53983830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201059490	chr15:53983833-53983834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546424459	chr15:53983837-53983838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200973168	chr15:53983841-53983842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58612900	chr15:53983845-53983846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540605729	chr15:53983849-53983850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560573797	chr15:53983853-53983854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151067927	chr15:53983857-53983858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79172035	chr15:53983861-53983862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74015888	chr15:53983865-53983866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562111000	chr15:53983917-53983918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552387212	chr15:53983934-53983935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17631603	chr15:53983968-53983969	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528614596	chr15:53983988-53983989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548572942	chr15:53984016-53984017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185786596	chr15:53984038-53984039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77327623	chr15:53984057-53984058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557685476	chr15:53984062-53984063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53959600-53986200	Weak transcription	Pancreas	Pancrea
2	chr15:53976600-53990600	Weak transcription	A549	lung
3	chr15:53982600-53985000	Strong transcription	Liver	Liver
4	chr15:53983600-53986400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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