Variant report

Variant	esv3326604
Chromosome Location	chr15:54844185-54847033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs533368685	chr15:54844188-54844189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540333464	chr15:54844215-54844216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560235645	chr15:54844261-54844262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528482062	chr15:54844356-54844357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12443186	chr15:54844381-54844382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs547965744	chr15:54844398-54844399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568372223	chr15:54844427-54844428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572940130	chr15:54844521-54844522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28623720	chr15:54844574-54844575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550862398	chr15:54844582-54844583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572321415	chr15:54844598-54844599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184353343	chr15:54844602-54844603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539444590	chr15:54844618-54844619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553034256	chr15:54844619-54844620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9796516	chr15:54844641-54844642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374246266	chr15:54844643-54844644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373405513	chr15:54844649-54844650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367848104	chr15:54844650-54844651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372208488	chr15:54844651-54844652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12899342	chr15:54844666-54844667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12899194	chr15:54844668-54844669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36141120	chr15:54844685-54844686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9796519	chr15:54844695-54844696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189241698	chr15:54844702-54844703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535582622	chr15:54844719-54844720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555991971	chr15:54844725-54844726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575796044	chr15:54844727-54844728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377575142	chr15:54844728-54844729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181757258	chr15:54844749-54844750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558441809	chr15:54844781-54844782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577929918	chr15:54844785-54844786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540211156	chr15:54844786-54844787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184726402	chr15:54844799-54844800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533491878	chr15:54844806-54844807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563730642	chr15:54844820-54844821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566140635	chr15:54844826-54844827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547660805	chr15:54844851-54844852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556160158	chr15:54844852-54844853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535069299	chr15:54844856-54844857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540723757	chr15:54844867-54844868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560148369	chr15:54844868-54844869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188927495	chr15:54844878-54844879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9796549	chr15:54844896-54844897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181676992	chr15:54844916-54844917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573793870	chr15:54844938-54844939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542717204	chr15:54845015-54845016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369915927	chr15:54845024-54845025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374018484	chr15:54845025-54845026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186289275	chr15:54845028-54845029	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs374640840	chr15:54845032-54845033	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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