Variant report

Variant	esv3328826
Chromosome Location	chr2:48878667-48879129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73931111	chr2:48878715-48878716	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73931112	chr2:48878725-48878726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1524155	chr2:48878727-48878728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73931113	chr2:48878744-48878745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563581027	chr2:48878763-48878764	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139924605	chr2:48878820-48878821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13382434	chr2:48878827-48878828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189505972	chr2:48878835-48878836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564812109	chr2:48878850-48878851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528747663	chr2:48878904-48878905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181595404	chr2:48878928-48878929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547796471	chr2:48878943-48878944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569279144	chr2:48878950-48878951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143453441	chr2:48878983-48878984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529444518	chr2:48878992-48878993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547992334	chr2:48879018-48879019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551082924	chr2:48879095-48879096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569733360	chr2:48879096-48879097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Breast cancer	17603634	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48863000-48898200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:48863000-48919600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:48869800-48915400	Weak transcription	Adipose Nuclei	Adipose
4	chr2:48874200-48897200	Weak transcription	Ovary	ovary
5	chr2:48874200-48919600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:48878000-48878800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:48878000-48878800	Enhancers	Osteobl	bone
8	chr2:48878000-48879200	Enhancers	NHLF	lung
9	chr2:48878200-48878800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:48878200-48878800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:48878200-48878800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:48878200-48879000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:48878200-48879000	Enhancers	Fetal Lung	lung
14	chr2:48878200-48879200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:48878600-48878800	Flanking Active TSS	NHDF-Ad	bronchial
16	chr2:48878800-48879200	Enhancers	NHDF-Ad	bronchial
17	chr2:48879000-48879400	Enhancers	Fetal Brain Female	brain
18	chr2:48879000-48879400	Enhancers	Fetal Stomach	stomach

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