Variant report

Variant	esv2131560
Chromosome Location	chr2:54954126-54954738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54938681..54941636-chr2:54954497..54956730,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58878579	chr2:54954156-54954157	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374558223	chr2:54954174-54954175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567495525	chr2:54954188-54954189	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs182925587	chr2:54954200-54954201	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548399080	chr2:54954203-54954204	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568280575	chr2:54954235-54954236	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537157753	chr2:54954307-54954308	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551007629	chr2:54954312-54954313	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570805046	chr2:54954315-54954316	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539809851	chr2:54954317-54954318	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558613171	chr2:54954320-54954321	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186613561	chr2:54954433-54954434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534887647	chr2:54954510-54954511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376300357	chr2:54954549-54954550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142994421	chr2:54954565-54954566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574642364	chr2:54954576-54954577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72913526	chr2:54954587-54954588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373600303	chr2:54954672-54954673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557014447	chr2:54954699-54954700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376240190	chr2:54954700-54954701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564368222	chr2:54954728-54954729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung adenocarcinoma	17086460	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54950200-54954400	Active TSS	Brain Angular Gyrus	brain
2	chr2:54952600-54955400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:54952600-54955600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54952800-54955200	Weak transcription	HSMM	muscle
5	chr2:54953200-54954200	Enhancers	Brain Anterior Caudate	brain
6	chr2:54953200-54955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:54953400-54954800	Weak transcription	HepG2	liver
8	chr2:54953400-54955400	Weak transcription	HSMMtube	muscle
9	chr2:54953600-54956600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:54953800-54954400	Enhancers	Hela-S3	cervix
11	chr2:54954000-54954200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:54954000-54954400	Enhancers	HMEC	breast
13	chr2:54954000-54954400	Enhancers	NHEK	skin
14	chr2:54954000-54954600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:54954200-54954400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:54954200-54955400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:54954400-54955400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:54954400-54955400	Weak transcription	Hela-S3	cervix
19	chr2:54954400-54955400	Weak transcription	HMEC	breast
20	chr2:54954400-54955400	Weak transcription	NHEK	skin
21	chr2:54954600-54958600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:54954600-54965000	Weak transcription	Fetal Intestine Small	intestine

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