Variant report

Variant	esv2762565
Chromosome Location	chr2:52699005-52700469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12468305	chr2:52699005-52699006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78209774	chr2:52699008-52699009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144497179	chr2:52699017-52699018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532551611	chr2:52699032-52699033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374278212	chr2:52699033-52699034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146622424	chr2:52699048-52699049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548764080	chr2:52699091-52699092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148826250	chr2:52699103-52699104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199828204	chr2:52699167-52699168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34675781	chr2:52699168-52699169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397936116	chr2:52699178-52699179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199739080	chr2:52699179-52699180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183620396	chr2:52699183-52699184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537322334	chr2:52699184-52699185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568666046	chr2:52699185-52699186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201344780	chr2:52699186-52699187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62129902	chr2:52699187-52699188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551272618	chr2:52699189-52699190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188382677	chr2:52699195-52699196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62129903	chr2:52699197-52699198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549655797	chr2:52699199-52699200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200420377	chr2:52699210-52699211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534443247	chr2:52699217-52699218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554343144	chr2:52699290-52699291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12477282	chr2:52699308-52699309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536809860	chr2:52699329-52699330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142491599	chr2:52699335-52699336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150962987	chr2:52699364-52699365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34464282	chr2:52699389-52699390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140765070	chr2:52699432-52699433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12477329	chr2:52699456-52699457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371296689	chr2:52699513-52699514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573253032	chr2:52699565-52699566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373660619	chr2:52699598-52699599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540956721	chr2:52699625-52699626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562007958	chr2:52699637-52699638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531146028	chr2:52699678-52699679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62129904	chr2:52699682-52699683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370890062	chr2:52699770-52699771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554298559	chr2:52699771-52699772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533488248	chr2:52699772-52699773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546876264	chr2:52699806-52699807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574594548	chr2:52699825-52699826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565362262	chr2:52699826-52699827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534288405	chr2:52699829-52699830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548280300	chr2:52699850-52699851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374558389	chr2:52699899-52699900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537253452	chr2:52699900-52699901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146018545	chr2:52699921-52699922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368255665	chr2:52700035-52700036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52695800-52700200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:52698200-52699200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:52698800-52700600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:52700200-52700800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:52700200-52701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:52700400-52701000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:52700400-52701200	Enhancers	Colon Smooth Muscle	Colon

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