Variant report

Variant	esv3376951
Chromosome Location	chr2:51889920-51890411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142835097	chr2:51889934-51889935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370445620	chr2:51889959-51889960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112637756	chr2:51889973-51889974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13382721	chr2:51889983-51889984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530951146	chr2:51889987-51889988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148354562	chr2:51890004-51890005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201661327	chr2:51890007-51890008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551851618	chr2:51890051-51890052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570489974	chr2:51890064-51890065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185429947	chr2:51890104-51890105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551032053	chr2:51890105-51890106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189555794	chr2:51890125-51890126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28961622	chr2:51890159-51890160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536906154	chr2:51890201-51890202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555343090	chr2:51890241-51890242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs966733	chr2:51890276-51890277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs537671964	chr2:51890296-51890297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28961623	chr2:51890303-51890304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577232226	chr2:51890382-51890383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17864572	chr2:51890395-51890396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17864573	chr2:51890407-51890408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Schizophrenia	20967226	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51888400-51891800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:51889000-51891200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:51889200-51890600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:51889400-51891200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:51889400-51891400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:51889600-51890600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:51889600-51890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:51889800-51891400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:51889800-51892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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