Variant report

Variant	nsv519399
Chromosome Location	chr15:53763360-53786291
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

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

No data

Extended variants
information (count: 727 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:727 , 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	rs2055407	chr15:53763360-53763361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76583210	chr15:53763363-53763364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537990776	chr15:53763405-53763406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557836893	chr15:53763408-53763409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577918940	chr15:53763445-53763446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140720227	chr15:53763506-53763507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560470907	chr15:53763533-53763534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116460921	chr15:53763558-53763559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542540111	chr15:53763559-53763560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558277242	chr15:53763570-53763571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143804728	chr15:53763608-53763609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184425284	chr15:53763695-53763696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111989566	chr15:53763698-53763699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556949512	chr15:53763703-53763704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564998070	chr15:53763751-53763752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75609842	chr15:53763770-53763771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547559796	chr15:53763774-53763775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567500416	chr15:53763800-53763801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575509513	chr15:53763822-53763823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537556487	chr15:53763863-53763864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11070984	chr15:53763892-53763893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550202335	chr15:53763899-53763900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187864049	chr15:53763910-53763911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs118098533	chr15:53763947-53763948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557902095	chr15:53763980-53763981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571337579	chr15:53764004-53764005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141062716	chr15:53764043-53764044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554042628	chr15:53764072-53764073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573746627	chr15:53764075-53764076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573917003	chr15:53764085-53764086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75876164	chr15:53764140-53764141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192937731	chr15:53764168-53764169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576394278	chr15:53764180-53764181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544969885	chr15:53764231-53764232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552910132	chr15:53764248-53764249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536821095	chr15:53764254-53764255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527809953	chr15:53764289-53764290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545812700	chr15:53764337-53764338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561573551	chr15:53764338-53764339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150239684	chr15:53764339-53764340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564251574	chr15:53764381-53764382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184133421	chr15:53764383-53764384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139191886	chr15:53764410-53764411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370516149	chr15:53764435-53764436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374587146	chr15:53764469-53764470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551424518	chr15:53764475-53764476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545368802	chr15:53764517-53764518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189466279	chr15:53764571-53764572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375929099	chr15:53764578-53764579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533913827	chr15:53764612-53764613	Weak transcription	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:29 , 50 per page) page: 1

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

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