Variant report

Variant	nsv569498
Chromosome Location	chr15:54490772-54496602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12440297	chr15:54490772-54490773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549897803	chr15:54490793-54490794	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141705161	chr15:54490794-54490795	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538639211	chr15:54490804-54490805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532395998	chr15:54490817-54490818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192963290	chr15:54490824-54490825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150536176	chr15:54490826-54490827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369007758	chr15:54490863-54490864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116137434	chr15:54490878-54490879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139478028	chr15:54490885-54490886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574731920	chr15:54490891-54490892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115093057	chr15:54490907-54490908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557434099	chr15:54490924-54490925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577230765	chr15:54491032-54491033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565537267	chr15:54491033-54491034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113450363	chr15:54491051-54491052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12440360	chr15:54491059-54491060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559515116	chr15:54491115-54491116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114610684	chr15:54491119-54491120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554220876	chr15:54491159-54491160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542159266	chr15:54491173-54491174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569382870	chr15:54491251-54491252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144186491	chr15:54491258-54491259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147343696	chr15:54491285-54491286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566611842	chr15:54491296-54491297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569749070	chr15:54491298-54491299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141045077	chr15:54491299-54491300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552229490	chr15:54491302-54491303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565718291	chr15:54491313-54491314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182557888	chr15:54491314-54491315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371691599	chr15:54491347-54491348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188028038	chr15:54491348-54491349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568318629	chr15:54491394-54491395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537265917	chr15:54491449-54491450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369949096	chr15:54491454-54491455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193017808	chr15:54491469-54491470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558484732	chr15:54491536-54491537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576945617	chr15:54491559-54491560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546017164	chr15:54491598-54491599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184716687	chr15:54491602-54491603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572949097	chr15:54491635-54491636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541775397	chr15:54491641-54491642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562057305	chr15:54491643-54491644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531078252	chr15:54491700-54491701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72748236	chr15:54491703-54491704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550580482	chr15:54491706-54491707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564554746	chr15:54491719-54491720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533560184	chr15:54491736-54491737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35070044	chr15:54491739-54491740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545679256	chr15:54491744-54491745	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54489400-54492400	Weak transcription	Fetal Lung	lung
2	chr15:54490000-54490800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr15:54490200-54490800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:54490200-54490800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:54490200-54490800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:54490400-54490800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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