Variant report

Variant	nsv1042604
Chromosome Location	chr15:53760504-53785267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:53756936..53759590-chr15:53761111..53762983,2	K562	blood:
2	chr15:53764621..53766901-chr15:53777731..53780214,2	MCF-7	breast:
3	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:
4	chr15:53729933..53730858-chr15:53774459..53775291,2	MCF-7	breast:
5	chr15:53764621..53766901-chr15:53777731..53780214,2	MCF-7	breast:
6	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:
7	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:
8	chr15:53764851..53765366-chr15:53878705..53879636,2	MCF-7	breast:
9	chr15:53729402..53730935-chr15:53762168..53764681,2	MCF-7	breast:
10	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:

No data

Extended variants
information (count: 746 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75511121	chr15:53762033-53762034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569354204	chr15:53762051-53762052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373502384	chr15:53762058-53762059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147456859	chr15:53762092-53762093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78609416	chr15:53762133-53762134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545413469	chr15:53762151-53762152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577887746	chr15:53762157-53762158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540503784	chr15:53762161-53762162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552585084	chr15:53762168-53762169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139809909	chr15:53762194-53762195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141761717	chr15:53762202-53762203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150568269	chr15:53762232-53762233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530629677	chr15:53762278-53762279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139550865	chr15:53762308-53762309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74015668	chr15:53762318-53762319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs995619	chr15:53762408-53762409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546905331	chr15:53762461-53762462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566916216	chr15:53762474-53762475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529254092	chr15:53762486-53762487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141314831	chr15:53762487-53762488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375547215	chr15:53762492-53762493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549218697	chr15:53762531-53762532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569300207	chr15:53762533-53762534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs615041	chr15:53762570-53762571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558358161	chr15:53762594-53762595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552691746	chr15:53762609-53762610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567474267	chr15:53762650-53762651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559759833	chr15:53762703-53762704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529889918	chr15:53762777-53762778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs956508	chr15:53762822-53762823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565864199	chr15:53762830-53762831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534262690	chr15:53762854-53762855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566789920	chr15:53762869-53762870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536516448	chr15:53762872-53762873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572511124	chr15:53762887-53762888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535390981	chr15:53762917-53762918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187904274	chr15:53762950-53762951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191808566	chr15:53762955-53762956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543955649	chr15:53762972-53762973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564311145	chr15:53763073-53763074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576416803	chr15:53763076-53763077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374397430	chr15:53763083-53763084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375198522	chr15:53763095-53763096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577906651	chr15:53763101-53763102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs956509	chr15:53763102-53763103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560447848	chr15:53763111-53763112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183235042	chr15:53763122-53763123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574055176	chr15:53763124-53763125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76509505	chr15:53763166-53763167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139194978	chr15:53763168-53763169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53762000-53762600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:53762600-53763400	Enhancers	NH-A	brain
3	chr15:53762600-53765000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:53764800-53765400	Enhancers	Liver	Liver
5	chr15:53764800-53767400	Enhancers	HepG2	liver
6	chr15:53765000-53765400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:53765000-53765400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:53765000-53766400	Enhancers	Pancreas	Pancrea
9	chr15:53765400-53765600	Flanking Active TSS	Liver	Liver
10	chr15:53765600-53766000	Enhancers	Liver	Liver
11	chr15:53766000-53766400	Flanking Active TSS	Liver	Liver
12	chr15:53772200-53773400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:53773400-53777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:53775200-53776000	Enhancers	HepG2	liver
15	chr15:53777000-53777600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:53777200-53777600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:53777600-53778800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:53777600-53779400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:53778800-53779800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:53779400-53779800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:53779800-53782200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:53779800-53783000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:53780200-53785000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:53782200-53783200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:53783000-53783600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:53783200-53783400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:53783400-53783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:53783600-53784800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:53784800-53786800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:53785000-53785200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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