Variant report

Variant	esv3365356
Chromosome Location	chr2:56740148-56747546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 260 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559652807	chr2:56742206-56742207	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs190410975	chr2:56742290-56742291	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs182936732	chr2:56742366-56742367	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs188663690	chr2:56742381-56742382	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs568166921	chr2:56742429-56742430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530927039	chr2:56742430-56742431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538201743	chr2:56742471-56742472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550725283	chr2:56742487-56742488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558274341	chr2:56742501-56742502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs890098	chr2:56742568-56742569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539656103	chr2:56742571-56742572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578032845	chr2:56742602-56742603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193255775	chr2:56742609-56742610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143156706	chr2:56742626-56742627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535393991	chr2:56742646-56742647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555410668	chr2:56742662-56742663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575264735	chr2:56742747-56742748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537565235	chr2:56742751-56742752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557860415	chr2:56742783-56742784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577349207	chr2:56742797-56742798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546026718	chr2:56742808-56742809	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs539080596	chr2:56742825-56742826	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs559612920	chr2:56742832-56742833	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs73940703	chr2:56742845-56742846	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546009965	chr2:56742894-56742895	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs146770914	chr2:56742908-56742909	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs111462514	chr2:56742917-56742918	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs182381801	chr2:56742918-56742919	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs530966524	chr2:56742990-56742991	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs550783264	chr2:56742995-56742996	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs187823347	chr2:56743015-56743016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10209533	chr2:56743021-56743022	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546821391	chr2:56743036-56743037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74473980	chr2:56743050-56743051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17048041	chr2:56743065-56743066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191599203	chr2:56743082-56743083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548970404	chr2:56743091-56743092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184073726	chr2:56743099-56743100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17048045	chr2:56743132-56743133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557557458	chr2:56743144-56743145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561599279	chr2:56743152-56743153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35330805	chr2:56743160-56743161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17048048	chr2:56743166-56743167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10164843	chr2:56743178-56743179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73940704	chr2:56743213-56743214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188799953	chr2:56743227-56743228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573175793	chr2:56743234-56743235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542098441	chr2:56743247-56743248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562442143	chr2:56743296-56743297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113637414	chr2:56743298-56743299	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56742200-56742400	Bivalent Enhancer	Fetal Heart	heart
2	chr2:56742200-56742800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:56742200-56743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:56742800-56743000	Bivalent Enhancer	Fetal Heart	heart
5	chr2:56743400-56745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:56745800-56746000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:56746000-56746600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:56746600-56749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:56746800-56747800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56747000-56747400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56747000-56747400	Enhancers	HSMM	muscle
12	chr2:56747200-56748000	Enhancers	Adipose Nuclei	Adipose
13	chr2:56747400-56749600	Weak transcription	HSMM	muscle
14	chr2:56747400-56749800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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