Variant report

Variant	nsv527020
Chromosome Location	chr15:53976167-53976397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12903062	chr15:53976167-53976168	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1903460	chr15:53976197-53976198	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74015887	chr15:53976207-53976208	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528652500	chr15:53976225-53976226	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34732697	chr15:53976243-53976244	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367995331	chr15:53976251-53976252	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575427948	chr15:53976262-53976263	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544538533	chr15:53976273-53976274	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564237600	chr15:53976293-53976294	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533171209	chr15:53976296-53976297	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540683885	chr15:53976297-53976298	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148677185	chr15:53976302-53976303	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188172526	chr15:53976329-53976330	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549091753	chr15:53976335-53976336	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28404332	chr15:53976339-53976340	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs28444659	chr15:53976345-53976346	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117068106	chr15:53976352-53976353	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180888997	chr15:53976367-53976368	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6493636	chr15:53976397-53976398	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53959600-53986200	Weak transcription	Pancreas	Pancrea
2	chr15:53973600-53983200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:53975400-53976600	Active TSS	Duodenum Mucosa	Duodenum
4	chr15:53975600-53976600	Active TSS	A549	lung
5	chr15:53975600-53982600	Weak transcription	Liver	Liver
6	chr15:53976000-53977200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:53976200-53976600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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