Variant report

Variant	esv3342728
Chromosome Location	chr15:54843485-54846233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140569394	chr15:54843520-54843521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542509798	chr15:54843559-54843560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150035055	chr15:54843565-54843566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535168014	chr15:54843610-54843611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531262144	chr15:54843626-54843627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375366017	chr15:54843631-54843632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544262898	chr15:54843671-54843672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564543980	chr15:54843690-54843691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74014212	chr15:54843701-54843702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547072303	chr15:54843764-54843765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553647357	chr15:54843840-54843841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575008369	chr15:54843848-54843849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565497853	chr15:54843876-54843877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528285675	chr15:54843877-54843878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548051902	chr15:54843884-54843885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10468009	chr15:54843901-54843902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192157580	chr15:54843917-54843918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184149242	chr15:54843993-54843994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188413017	chr15:54844000-54844001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553043841	chr15:54844011-54844012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563718734	chr15:54844014-54844015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553122181	chr15:54844058-54844059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573450229	chr15:54844059-54844060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77964001	chr15:54844082-54844083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556032837	chr15:54844109-54844110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79213662	chr15:54844139-54844140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544934388	chr15:54844144-54844145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564273736	chr15:54844175-54844176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202029904	chr15:54844182-54844183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533368685	chr15:54844188-54844189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540333464	chr15:54844215-54844216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560235645	chr15:54844261-54844262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528482062	chr15:54844356-54844357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12443186	chr15:54844381-54844382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs547965744	chr15:54844398-54844399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568372223	chr15:54844427-54844428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572940130	chr15:54844521-54844522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28623720	chr15:54844574-54844575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550862398	chr15:54844582-54844583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572321415	chr15:54844598-54844599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184353343	chr15:54844602-54844603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539444590	chr15:54844618-54844619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553034256	chr15:54844619-54844620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9796516	chr15:54844641-54844642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374246266	chr15:54844643-54844644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373405513	chr15:54844649-54844650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367848104	chr15:54844650-54844651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372208488	chr15:54844651-54844652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12899342	chr15:54844666-54844667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12899194	chr15:54844668-54844669	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
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54811000-54869600	Weak transcription	Aorta	Aorta
2	chr15:54839800-54858800	Weak transcription	Fetal Lung	lung

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