Variant report

Variant	nsv1037269
Chromosome Location	chr15:53276393-53316510
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: 220 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1501024	chr15:53276393-53276394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141330940	chr15:53276403-53276404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536328424	chr15:53276427-53276428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556252667	chr15:53276444-53276445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28714979	chr15:53276448-53276449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539232426	chr15:53276465-53276466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535289175	chr15:53276479-53276480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376221672	chr15:53276488-53276489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117792129	chr15:53276513-53276514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189590372	chr15:53276527-53276528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534303079	chr15:53276580-53276581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541389125	chr15:53276599-53276600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368993929	chr15:53276638-53276639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573696952	chr15:53276660-53276661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150778417	chr15:53276707-53276708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373134387	chr15:53276714-53276715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562573094	chr15:53276840-53276841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180775340	chr15:53276843-53276844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375359787	chr15:53276933-53276934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138017920	chr15:53276942-53276943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2133985	chr15:53276952-53276953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143538076	chr15:53276972-53276973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527558114	chr15:53276985-53276986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547407220	chr15:53276991-53276992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369495668	chr15:53276993-53276994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530041045	chr15:53277005-53277006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115926416	chr15:53277022-53277023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372737607	chr15:53277103-53277104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116225206	chr15:53277107-53277108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147155703	chr15:53277176-53277177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7163072	chr15:53277184-53277185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371068101	chr15:53286049-53286050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554329277	chr15:53286052-53286053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184047452	chr15:53286058-53286059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544913515	chr15:53286081-53286082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201309290	chr15:53286122-53286123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375711157	chr15:53286141-53286142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139782028	chr15:53286207-53286208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560192429	chr15:53286237-53286238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527413045	chr15:53286243-53286244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112481047	chr15:53286265-53286266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372278821	chr15:53286335-53286336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143035940	chr15:53286336-53286337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548986728	chr15:53286352-53286353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539832400	chr15:53286387-53286388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553448685	chr15:53286405-53286406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573351784	chr15:53286467-53286468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75850901	chr15:53286487-53286488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115118920	chr15:53286512-53286513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575816592	chr15:53286556-53286557	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:12 , 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	chr15:53276400-53277000	Enhancers	Brain Germinal Matrix	brain
3	chr15:53276400-53277200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr15:53276800-53277000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:53276800-53277200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:53277000-53277200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:53286000-53287000	Enhancers	Liver	Liver
8	chr15:53289200-53289400	Enhancers	Liver	Liver
9	chr15:53292200-53293800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:53292200-53293800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:53303200-53303400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:53303200-53304600	Enhancers	Liver	Liver

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