Variant report

Variant	nsv569513
Chromosome Location	chr15:54891531-54893011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536715328	chr15:54891573-54891574	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10152979	chr15:54891667-54891668	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563315112	chr15:54891670-54891671	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546033084	chr15:54891682-54891683	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2947000	chr15:54891699-54891700	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77849743	chr15:54891715-54891716	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10152907	chr15:54891716-54891717	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs372613938	chr15:54891724-54891725	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575609604	chr15:54891737-54891738	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2414327	chr15:54891816-54891817	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187287019	chr15:54891847-54891848	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532198814	chr15:54891968-54891969	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9920919	chr15:54892000-54892001	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs551345943	chr15:54892019-54892020	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373472827	chr15:54892065-54892066	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559666230	chr15:54892074-54892075	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571100875	chr15:54892147-54892148	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376644213	chr15:54892168-54892169	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145233978	chr15:54892173-54892174	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191860844	chr15:54892176-54892177	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567924989	chr15:54892188-54892189	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541451315	chr15:54892199-54892200	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201991517	chr15:54892200-54892201	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534998411	chr15:54892230-54892231	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184178247	chr15:54892362-54892363	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550399869	chr15:54892392-54892393	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1818704	chr15:54892404-54892405	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539625798	chr15:54892409-54892410	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113829788	chr15:54892415-54892416	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573123085	chr15:54892537-54892538	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535714183	chr15:54892545-54892546	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556033758	chr15:54892546-54892547	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140607841	chr15:54892569-54892570	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6493693	chr15:54892583-54892584	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115049736	chr15:54892615-54892616	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578164173	chr15:54892635-54892636	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189495260	chr15:54892662-54892663	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559558160	chr15:54892683-54892684	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193009503	chr15:54892719-54892720	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548460666	chr15:54892735-54892736	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562060421	chr15:54892740-54892741	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377231706	chr15:54892798-54892799	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2251066	chr15:54892839-54892840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2037384	chr15:54892877-54892878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185878562	chr15:54892918-54892919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150475593	chr15:54892925-54892926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566682929	chr15:54892933-54892934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535654859	chr15:54892990-54892991	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	chr15:54887600-54892800	Strong transcription	Fetal Heart	heart
2	chr15:54892800-54894400	Weak transcription	Fetal Heart	heart

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