Variant report

Variant	esv14802
Chromosome Location	chr2:56720459-56748522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 349 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2113864	chr2:56732604-56732605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558219961	chr2:56732619-56732620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193204170	chr2:56732621-56732622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138888375	chr2:56732658-56732659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529379433	chr2:56732675-56732676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10193624	chr2:56732701-56732702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34349569	chr2:56732721-56732722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6756460	chr2:56732729-56732730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538106380	chr2:56732741-56732742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558070332	chr2:56732797-56732798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571595426	chr2:56732805-56732806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558051081	chr2:56732844-56732845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533770599	chr2:56732871-56732872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149382409	chr2:56732964-56732965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527534551	chr2:56732967-56732968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10193747	chr2:56732978-56732979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10490406	chr2:56732979-56732980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555505876	chr2:56733019-56733020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185458803	chr2:56733025-56733026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544430404	chr2:56733039-56733040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564435818	chr2:56733045-56733046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144713197	chr2:56733053-56733054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189449759	chr2:56733108-56733109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560289195	chr2:56733132-56733133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368933677	chr2:56733142-56733143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148510101	chr2:56733156-56733157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373610230	chr2:56733171-56733172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567593554	chr2:56733184-56733185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569410807	chr2:56733188-56733189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537417660	chr2:56733192-56733193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180715697	chr2:56733204-56733205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183688223	chr2:56733228-56733229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571524855	chr2:56733248-56733249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533846007	chr2:56733267-56733268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142745563	chr2:56733287-56733288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114252807	chr2:56733322-56733323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536279516	chr2:56733325-56733326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376926208	chr2:56733336-56733337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555817510	chr2:56733352-56733353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536534962	chr2:56733354-56733355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556462996	chr2:56733384-56733385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150704782	chr2:56733385-56733386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559652807	chr2:56742206-56742207	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs190410975	chr2:56742290-56742291	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs182936732	chr2:56742366-56742367	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs188663690	chr2:56742381-56742382	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs568166921	chr2:56742429-56742430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530927039	chr2:56742430-56742431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538201743	chr2:56742471-56742472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550725283	chr2:56742487-56742488	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56732600-56733400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr2:56742200-56742400	Bivalent Enhancer	Fetal Heart	heart
3	chr2:56742200-56742800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:56742200-56743400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:56742800-56743000	Bivalent Enhancer	Fetal Heart	heart
6	chr2:56743400-56745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:56745800-56746000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:56746000-56746600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:56746600-56749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:56746800-56747800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:56747000-56747400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:56747000-56747400	Enhancers	HSMM	muscle
13	chr2:56747200-56748000	Enhancers	Adipose Nuclei	Adipose
14	chr2:56747400-56749600	Weak transcription	HSMM	muscle
15	chr2:56747400-56749800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:56747800-56749800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:56748000-56750200	Weak transcription	Adipose Nuclei	Adipose

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