Variant report

Variant	nsv524374
Chromosome Location	chr2:47066125-47066282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4952853	chr2:47066125-47066126	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4953429	chr2:47066155-47066156	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1947109	chr2:47066164-47066165	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145076602	chr2:47066166-47066167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78607086	chr2:47066185-47066186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541023911	chr2:47066198-47066199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559740220	chr2:47066213-47066214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530135919	chr2:47066228-47066229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548731023	chr2:47066247-47066248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74933397	chr2:47066248-47066249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375633964	chr2:47066262-47066263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4952854	chr2:47066270-47066271	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147559973	chr2:47066278-47066279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1947110	chr2:47066282-47066283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47060200-47070400	Weak transcription	NHDF-Ad	bronchial
2	chr2:47063400-47072200	Weak transcription	Placenta	Placenta
3	chr2:47063800-47068800	Weak transcription	HUVEC	blood vessel
4	chr2:47063800-47072000	Weak transcription	Lung	lung
5	chr2:47063800-47072200	Weak transcription	Left Ventricle	heart
6	chr2:47063800-47072200	Weak transcription	Pancreas	Pancrea
7	chr2:47063800-47072800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:47063800-47073000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:47064000-47067400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:47064000-47067400	Strong transcription	Osteobl	bone
11	chr2:47064000-47069400	Weak transcription	Right Ventricle	heart
12	chr2:47064000-47070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:47064000-47072800	Weak transcription	Right Atrium	heart
14	chr2:47064000-47072800	Weak transcription	Spleen	Spleen
15	chr2:47064000-47073200	Weak transcription	NHLF	lung
16	chr2:47064200-47066600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:47064200-47070200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:47065400-47068200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:47065400-47068600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links