Variant report

Variant	nsv569429
Chromosome Location	chr15:53301023-53329302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:53314666..53317363-chr15:53317996..53319589,2	MCF-7	breast:
2	chr15:53299361..53301587-chr9:109632566..109635253,2	MCF-7	breast:
3	chr15:53314666..53317363-chr15:53317996..53319589,2	MCF-7	breast:
4	chr15:53318089..53321018-chr15:53355252..53357036,2	MCF-7	breast:

Extended variants
information (count: 379 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186597866	chr15:53303224-53303225	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555034417	chr15:53303261-53303262	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370528679	chr15:53303292-53303293	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537564244	chr15:53303297-53303298	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28845770	chr15:53303305-53303306	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191851172	chr15:53303326-53303327	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540066363	chr15:53303369-53303370	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553388102	chr15:53303389-53303390	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184607417	chr15:53303399-53303400	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141866548	chr15:53303400-53303401	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560569948	chr15:53303441-53303442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375354826	chr15:53303446-53303447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574170075	chr15:53303497-53303498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543157942	chr15:53303520-53303521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563459502	chr15:53303524-53303525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188791144	chr15:53303535-53303536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552374972	chr15:53303594-53303595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559667995	chr15:53303620-53303621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192863206	chr15:53303621-53303622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548574683	chr15:53303642-53303643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568468368	chr15:53303645-53303646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537501334	chr15:53303666-53303667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185878609	chr15:53303699-53303700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570973045	chr15:53303714-53303715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372788285	chr15:53303721-53303722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554924913	chr15:53303724-53303725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539624320	chr15:53303745-53303746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553566227	chr15:53303748-53303749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546501594	chr15:53303763-53303764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189289580	chr15:53303770-53303771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375500583	chr15:53303790-53303791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554100098	chr15:53303794-53303795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181753490	chr15:53303795-53303796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12903375	chr15:53303819-53303820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563213829	chr15:53303834-53303835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576902730	chr15:53303849-53303850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35510814	chr15:53303889-53303890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199835610	chr15:53303904-53303905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545643031	chr15:53303906-53303907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35092738	chr15:53303908-53303909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114018258	chr15:53303910-53303911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114653654	chr15:53303974-53303975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146260826	chr15:53304057-53304058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530809721	chr15:53304137-53304138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550981333	chr15:53304162-53304163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570841850	chr15:53304194-53304195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539937979	chr15:53304214-53304215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532943468	chr15:53304218-53304219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567794908	chr15:53304247-53304248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138029740	chr15:53304269-53304270	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	21785460	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
Melanoma	21949216	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53303200-53303400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:53303200-53304600	Enhancers	Liver	Liver
3	chr15:53321800-53322800	Enhancers	Liver	Liver
4	chr15:53322800-53323400	Flanking Active TSS	Liver	Liver
5	chr15:53322800-53326400	Enhancers	HepG2	liver
6	chr15:53323400-53326200	Enhancers	Liver	Liver
7	chr15:53326200-53326400	Flanking Active TSS	Liver	Liver
8	chr15:53326400-53326600	Enhancers	Liver	Liver
9	chr15:53326400-53327000	Flanking Active TSS	HepG2	liver
10	chr15:53326600-53326800	Flanking Active TSS	Liver	Liver
11	chr15:53326800-53327800	Enhancers	Liver	Liver
12	chr15:53327000-53327200	Enhancers	HepG2	liver
13	chr15:53327200-53327400	Flanking Active TSS	HepG2	liver
14	chr15:53327400-53328400	Enhancers	HepG2	liver
15	chr15:53327800-53328200	Flanking Active TSS	Liver	Liver
16	chr15:53328200-53330600	Enhancers	Liver	Liver
17	chr15:53328400-53329600	Weak transcription	HepG2	liver

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