Variant report

Variant	esv3332335
Chromosome Location	chr2:51486648-51488746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141729388	chr2:51486835-51486836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550013754	chr2:51486841-51486842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565331834	chr2:51486868-51486869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17041479	chr2:51486873-51486874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547533695	chr2:51486888-51486889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17041482	chr2:51486890-51486891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564256634	chr2:51486900-51486901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536168759	chr2:51486905-51486906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201576885	chr2:51486949-51486950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138832468	chr2:51486966-51486967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529039581	chr2:51486969-51486970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569351779	chr2:51486971-51486972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537010764	chr2:51487002-51487003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115190742	chr2:51487038-51487039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17041485	chr2:51487059-51487060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs17041486	chr2:51487080-51487081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565024431	chr2:51487081-51487082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532879702	chr2:51487112-51487113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145739708	chr2:51487113-51487114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138269155	chr2:51487138-51487139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17041487	chr2:51487142-51487143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186606917	chr2:51487144-51487145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555259000	chr2:51487183-51487184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566529936	chr2:51487188-51487189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62140692	chr2:51487193-51487194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191144566	chr2:51487228-51487229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565249236	chr2:51487240-51487241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184785388	chr2:51487269-51487270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188102156	chr2:51487271-51487272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541104013	chr2:51487303-51487304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548880599	chr2:51487304-51487305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142963907	chr2:51487318-51487319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200196765	chr2:51487354-51487355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76660752	chr2:51487365-51487366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568772192	chr2:51487392-51487393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192986239	chr2:51487394-51487395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200777072	chr2:51487450-51487451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185277899	chr2:51487466-51487467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150657521	chr2:51487467-51487468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200846128	chr2:51487496-51487497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138955814	chr2:51487502-51487503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557107127	chr2:51487548-51487549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189584778	chr2:51487559-51487560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149438437	chr2:51487609-51487610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553103753	chr2:51487638-51487639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566283045	chr2:51487645-51487646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57393504	chr2:51487742-51487743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111525965	chr2:51487765-51487766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75642936	chr2:51487766-51487767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537852732	chr2:51487774-51487775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
small cell lung cancer	20016488	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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51486800-51487000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:51487000-51490600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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