Variant report

Variant	nsv962068
Chromosome Location	chr2:50120656-50125604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:50121980-50122157	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr2:50124842-50124960	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr2:50121751-50121787	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:50125014-50125023	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr2:50125125-50125256	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50122266..50124004-chr2:50125088..50127859,2	MCF-7	breast:
2	chr2:50122266..50124004-chr2:50125088..50127859,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212580	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79455953	chr2:50125021-50125022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75542079	chr2:50125022-50125023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546982375	chr2:50125081-50125082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559070307	chr2:50125128-50125129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529718203	chr2:50125167-50125168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554203689	chr2:50125434-50125435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138238203	chr2:50125437-50125438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554254816	chr2:50125439-50125440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536760816	chr2:50125444-50125445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371597515	chr2:50125468-50125469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561750167	chr2:50125549-50125550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537163078	chr2:50125553-50125554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115612401	chr2:50125573-50125574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Bladder cancer	21909424	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
Breast cancer	21364760	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
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50125000-50125200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:50125400-50126600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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