Variant report

Variant	nsv1042778
Chromosome Location	chr15:53270983-53316510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:53299361..53301587-chr9:109632566..109635253,2	MCF-7	breast:
2	chr15:53314666..53317363-chr15:53317996..53319589,2	MCF-7	breast:

Extended variants
information (count: 439 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368512276	chr15:53270987-53270988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570309719	chr15:53271022-53271023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116867414	chr15:53271059-53271060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8031886	chr15:53271109-53271110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377259126	chr15:53271173-53271174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145069338	chr15:53271254-53271255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541786249	chr15:53271273-53271274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371118674	chr15:53271297-53271298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573511589	chr15:53271304-53271305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576314869	chr15:53271305-53271306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542617389	chr15:53271335-53271336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562508308	chr15:53271336-53271337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531429454	chr15:53271339-53271340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551528419	chr15:53271342-53271343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114110851	chr15:53271355-53271356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188289354	chr15:53271431-53271432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547344588	chr15:53271439-53271440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567552749	chr15:53271444-53271445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374053059	chr15:53271455-53271456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180767140	chr15:53271458-53271459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185660906	chr15:53271470-53271471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538733463	chr15:53271478-53271479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147558058	chr15:53271492-53271493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572521583	chr15:53271536-53271537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76302042	chr15:53271555-53271556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560619030	chr15:53271565-53271566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115396883	chr15:53271593-53271594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191453131	chr15:53271610-53271611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76203703	chr15:53271652-53271653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182780627	chr15:53271669-53271670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113638987	chr15:53271704-53271705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187052484	chr15:53271779-53271780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370498972	chr15:53271858-53271859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191441639	chr15:53271897-53271898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75234971	chr15:53271906-53271907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183514064	chr15:53271932-53271933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145631283	chr15:53271936-53271937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543816700	chr15:53271941-53271942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549700249	chr15:53271969-53271970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569681275	chr15:53271970-53271971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7175916	chr15:53271985-53271986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374298990	chr15:53272033-53272034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566174707	chr15:53272045-53272046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534845981	chr15:53272106-53272107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531763894	chr15:53272113-53272114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555141995	chr15:53272154-53272155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187797072	chr15:53272175-53272176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537723740	chr15:53272185-53272186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191599960	chr15:53272189-53272190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576076992	chr15:53272202-53272203	Weak transcription	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53264200-53276800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:53273200-53273400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:53273200-53273800	Enhancers	Dnd41	blood
4	chr15:53276400-53277000	Enhancers	Brain Germinal Matrix	brain
5	chr15:53276400-53277200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr15:53276800-53277000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:53276800-53277200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:53277000-53277200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:53286000-53287000	Enhancers	Liver	Liver
10	chr15:53289200-53289400	Enhancers	Liver	Liver
11	chr15:53292200-53293800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:53292200-53293800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:53303200-53303400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:53303200-53304600	Enhancers	Liver	Liver

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