Variant report

Variant	esv3447960
Chromosome Location	chr2:53091117-53091705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-1	chr2:53091373-53091454	XLOC_001470

Extended variants
information (count: 24 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545863193	chr2:53091118-53091119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369024252	chr2:53091130-53091131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564060978	chr2:53091177-53091178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146262437	chr2:53091208-53091209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540261164	chr2:53091249-53091250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541435159	chr2:53091256-53091257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370863325	chr2:53091266-53091267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111264725	chr2:53091278-53091279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572899193	chr2:53091286-53091287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376330218	chr2:53091321-53091322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544042721	chr2:53091342-53091343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148484511	chr2:53091377-53091378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs188352339	chr2:53091393-53091394	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs192997973	chr2:53091427-53091428	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs372666912	chr2:53091444-53091445	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs141711648	chr2:53091480-53091481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529262397	chr2:53091488-53091489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184296438	chr2:53091510-53091511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569538754	chr2:53091535-53091536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538526868	chr2:53091540-53091541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558197977	chr2:53091581-53091582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189576600	chr2:53091586-53091587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534169470	chr2:53091623-53091624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12618983	chr2:53091691-53091692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53090200-53093600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:53090400-53091800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:53090400-53096200	Weak transcription	NHDF-Ad	bronchial
4	chr2:53091000-53091200	Enhancers	A549	lung
5	chr2:53091600-53095600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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