Variant report

Variant	esv5753
Chromosome Location	chr2:56083327-56084062
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	chr2:56081136..56083085-chr2:56083117..56085242,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563047923	chr2:56083337-56083338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576340075	chr2:56083397-56083398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74733995	chr2:56083409-56083410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564958479	chr2:56083526-56083527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13014814	chr2:56083540-56083541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs70955003	chr2:56083562-56083563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370649173	chr2:56083659-56083660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551021716	chr2:56083680-56083681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527942641	chr2:56083708-56083709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112834591	chr2:56083824-56083825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367573981	chr2:56083838-56083839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371772057	chr2:56083839-56083840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376704736	chr2:56083841-56083842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369126364	chr2:56083842-56083843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200211176	chr2:56083843-56083844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569767457	chr2:56083848-56083849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186508323	chr2:56083954-56083955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552176658	chr2:56083965-56083966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190948060	chr2:56084018-56084019	Weak transcription Enhancers Flanking Active TSS	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
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
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56071400-56084000	Weak transcription	HSMM	muscle
2	chr2:56071600-56086800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:56071800-56084000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:56079000-56088600	Weak transcription	Fetal Lung	lung
5	chr2:56082400-56085400	Enhancers	HMEC	breast
6	chr2:56082600-56083400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:56082600-56083800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:56082600-56083800	Enhancers	Placenta	Placenta
9	chr2:56082600-56084000	Enhancers	A549	lung
10	chr2:56082600-56085200	Enhancers	Hela-S3	cervix
11	chr2:56082600-56085400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:56082600-56086000	Enhancers	NHEK	skin
13	chr2:56082600-56086400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:56082800-56085600	Enhancers	Osteobl	bone
15	chr2:56083000-56084600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:56083200-56084200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:56083200-56088600	Weak transcription	Ovary	ovary
18	chr2:56083400-56088800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:56083800-56084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:56083800-56084200	Weak transcription	Placenta	Placenta
21	chr2:56083800-56084400	Enhancers	Aorta	Aorta
22	chr2:56084000-56084200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:56084000-56084600	Flanking Active TSS	A549	lung
24	chr2:56084000-56084600	Enhancers	HSMM	muscle
25	chr2:56084000-56085000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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