Variant report

Variant	nsv520023
Chromosome Location	chr15:34070882-34071305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4779646	chr15:34070882-34070883	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531023779	chr15:34070913-34070914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549439478	chr15:34070920-34070921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567622807	chr15:34070968-34070969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4779647	chr15:34070971-34070972	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553596971	chr15:34071009-34071010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144726933	chr15:34071011-34071012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138606944	chr15:34071054-34071055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12913948	chr15:34071077-34071078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371049598	chr15:34071089-34071090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557272042	chr15:34071216-34071217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553072070	chr15:34071243-34071244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114293434	chr15:34071259-34071260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139881138	chr15:34071279-34071280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7169486	chr15:34071305-34071306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
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
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34050400-34074200	Weak transcription	Brain Substantia Nigra	brain
2	chr15:34050800-34072400	Weak transcription	Brain Anterior Caudate	brain
3	chr15:34050800-34080200	Weak transcription	Aorta	Aorta
4	chr15:34051000-34072600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:34051000-34089200	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:34051200-34077400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:34051600-34072600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:34061600-34121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:34064400-34072600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:34065200-34072200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr15:34067800-34086800	Weak transcription	Fetal Stomach	stomach
12	chr15:34069000-34071000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:34069400-34071800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr15:34070600-34071600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:34070600-34071600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:34070800-34071000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr15:34071000-34071800	Enhancers	Fetal Lung	lung
18	chr15:34071000-34074400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:34071000-34075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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