Variant report

Variant	esv3377979
Chromosome Location	chr15:87578327-87578445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567065494	chr15:87578332-87578333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200035989	chr15:87578341-87578342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201132831	chr15:87578342-87578343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202240819	chr15:87578343-87578344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200518501	chr15:87578346-87578347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55780435	chr15:87578352-87578353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141613371	chr15:87578356-87578357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56041537	chr15:87578359-87578360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2043382	chr15:87578360-87578361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558973602	chr15:87578372-87578373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577066571	chr15:87578376-87578377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55858237	chr15:87578390-87578391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565283519	chr15:87578396-87578397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2043381	chr15:87578406-87578407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56397632	chr15:87578410-87578411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200262463	chr15:87578414-87578415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56172719	chr15:87578416-87578417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56397507	chr15:87578422-87578423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551086840	chr15:87578430-87578431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556641431	chr15:87578435-87578436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5027895	chr15:87578440-87578441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87575800-87579000	Weak transcription	Brain Substantia Nigra	brain
2	chr15:87576000-87579000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:87576000-87581200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:87576400-87579400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:87577000-87579200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:87577200-87578800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:87577400-87579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:87577800-87581400	Weak transcription	Placenta Amnion	Placenta Amnion

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