Variant report

Variant	nsv569500
Chromosome Location	chr15:54491507-54496283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558484732	chr15:54491536-54491537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576945617	chr15:54491559-54491560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546017164	chr15:54491598-54491599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184716687	chr15:54491602-54491603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572949097	chr15:54491635-54491636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541775397	chr15:54491641-54491642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562057305	chr15:54491643-54491644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531078252	chr15:54491700-54491701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72748236	chr15:54491703-54491704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550580482	chr15:54491706-54491707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564554746	chr15:54491719-54491720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533560184	chr15:54491736-54491737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35070044	chr15:54491739-54491740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545679256	chr15:54491744-54491745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554444839	chr15:54491752-54491753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552030393	chr15:54491780-54491781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565730999	chr15:54491791-54491792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528099632	chr15:54491804-54491805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117533552	chr15:54491816-54491817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568386551	chr15:54491826-54491827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536973480	chr15:54491840-54491841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557204887	chr15:54491878-54491879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570596484	chr15:54491892-54491893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117241478	chr15:54491954-54491955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553053815	chr15:54491982-54491983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572961243	chr15:54492018-54492019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145817954	chr15:54492035-54492036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4776214	chr15:54492045-54492046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575575027	chr15:54492078-54492079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148978527	chr15:54492084-54492085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142895477	chr15:54492090-54492091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578111228	chr15:54492091-54492092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540777995	chr15:54492094-54492095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35001638	chr15:54492121-54492122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376528897	chr15:54492129-54492130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188833092	chr15:54492202-54492203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566153669	chr15:54492217-54492218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531800593	chr15:54492218-54492219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548284210	chr15:54492251-54492252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561699460	chr15:54492255-54492256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530519092	chr15:54492267-54492268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12441338	chr15:54492268-54492269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550649360	chr15:54492394-54492395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54489400-54492400	Weak transcription	Fetal Lung	lung

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