Variant report

Variant	nsv569446
Chromosome Location	chr15:53974995-53976167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556513649	chr15:53975008-53975009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552004614	chr15:53975025-53975026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141345200	chr15:53975053-53975054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2447053	chr15:53975084-53975085	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548345556	chr15:53975186-53975187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78991149	chr15:53975192-53975193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184984855	chr15:53975219-53975220	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550807885	chr15:53975222-53975223	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs79059634	chr15:53975240-53975241	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539840320	chr15:53975276-53975277	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140126618	chr15:53975287-53975288	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553020683	chr15:53975292-53975293	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116353246	chr15:53975297-53975298	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs573562693	chr15:53975316-53975317	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535799868	chr15:53975370-53975371	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs74015881	chr15:53975388-53975389	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12437464	chr15:53975404-53975405	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138845545	chr15:53975408-53975409	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76983488	chr15:53975420-53975421	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186550603	chr15:53975433-53975434	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576575475	chr15:53975435-53975436	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs28470509	chr15:53975439-53975440	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115661868	chr15:53975451-53975452	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs377288261	chr15:53975464-53975465	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191378697	chr15:53975465-53975466	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141972968	chr15:53975501-53975502	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112047025	chr15:53975518-53975519	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs561882832	chr15:53975526-53975527	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376593235	chr15:53975535-53975536	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74015882	chr15:53975554-53975555	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539696170	chr15:53975577-53975578	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550841815	chr15:53975589-53975590	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs34120953	chr15:53975593-53975594	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184537437	chr15:53975594-53975595	Weak transcription Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201352329	chr15:53975615-53975616	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145624180	chr15:53975630-53975631	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114896770	chr15:53975636-53975637	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs76679205	chr15:53975678-53975679	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575744278	chr15:53975688-53975689	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538050011	chr15:53975809-53975810	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs74015883	chr15:53975822-53975823	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138131803	chr15:53975834-53975835	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs149546276	chr15:53975837-53975838	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs74015884	chr15:53975854-53975855	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376575467	chr15:53975857-53975858	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs189367974	chr15:53975906-53975907	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142068467	chr15:53975914-53975915	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs73410179	chr15:53975935-53975936	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs74015885	chr15:53975953-53975954	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1982601	chr15:53975964-53975965	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53959600-53986200	Weak transcription	Pancreas	Pancrea
2	chr15:53973600-53983200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:53974000-53975600	Strong transcription	Liver	Liver
4	chr15:53974400-53975200	Enhancers	A549	lung
5	chr15:53975200-53975600	Flanking Active TSS	A549	lung
6	chr15:53975400-53976600	Active TSS	Duodenum Mucosa	Duodenum
7	chr15:53975600-53976600	Active TSS	A549	lung
8	chr15:53975600-53982600	Weak transcription	Liver	Liver
9	chr15:53976000-53977200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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