Variant report

Variant	esv3448050
Chromosome Location	chr15:33547101-33547580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 91 )

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	rs57394187	chr15:33547142-33547143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75306394	chr15:33547143-33547144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76161115	chr15:33547144-33547145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113789389	chr15:33547153-33547154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202181859	chr15:33547158-33547159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574820436	chr15:33547177-33547178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542136313	chr15:33547224-33547225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4350545	chr15:33547255-33547256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572407687	chr15:33547301-33547302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113636238	chr15:33547330-33547331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8033526	chr15:33547331-33547332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568934959	chr15:33547372-33547373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567736804	chr15:33547434-33547435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564619536	chr15:33547447-33547448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376247284	chr15:33547481-33547482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377717105	chr15:33547482-33547483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561186695	chr15:33547526-33547527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59020869	chr15:33547529-33547530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199663372	chr15:33547545-33547546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549988601	chr15:33547546-33547547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556769913	chr15:33547580-33547581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Prader-willi syndrome	21504564	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33535600-33549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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