Variant report

Variant	esv3457655
Chromosome Location	chr2:46910038-46910537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGF-2	chr2:46909764-46910140	XLOC_002087
2	lnc-PIGF-2	chr2:46910457-46910666	XLOC_002087

Extended variants
information (count: 16 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184539525	chr2:46910040-46910041	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs28370327	chr2:46910064-46910065	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558687408	chr2:46910102-46910103	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs570630247	chr2:46910107-46910108	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs534825742	chr2:46910122-46910123	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs189129518	chr2:46910129-46910130	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs200365531	chr2:46910151-46910152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373143915	chr2:46910152-46910153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574680635	chr2:46910298-46910299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369815571	chr2:46910308-46910309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574653800	chr2:46910406-46910407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375456094	chr2:46910448-46910449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73926564	chr2:46910488-46910489	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112856381	chr2:46910489-46910490	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs575241442	chr2:46910501-46910502	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs62136934	chr2:46910509-46910510	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46906000-46911400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:46907400-46910800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:46907600-46911200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:46907600-46911400	Weak transcription	Osteobl	bone
5	chr2:46907800-46911400	Weak transcription	NHDF-Ad	bronchial
6	chr2:46907800-46911800	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:46908400-46911200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:46908400-46911400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:46908400-46912400	Weak transcription	NHLF	lung
10	chr2:46909600-46910800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:46909600-46911200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:46909800-46911200	Weak transcription	GM12878-XiMat	blood
13	chr2:46910000-46911600	Enhancers	Primary B cells from cord blood	blood

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