Variant report

Variant	esv1734303
Chromosome Location	chr2:53702767-53702772
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	BRCA1	chr2:53702397-53703247	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr2:53701938-53703325	HCT-116	colon:	n/a	n/a
3	CBX3	chr2:53702123-53703068	HCT-116	colon:	n/a	n/a
4	CEBPB	chr2:53702175-53703286	Hela-S3	cervix:	n/a	chr2:53703002-53703019
5	CEBPB	chr2:53702263-53703112	HCT-116	colon:	n/a	chr2:53703002-53703019
6	CEBPB	chr2:53702219-53703198	HCT-116	colon:	n/a	chr2:53703002-53703019
7	CHD2	chr2:53702154-53703199	Hela-S3	cervix:	n/a	n/a
8	E2F4	chr2:53702610-53703161	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr2:53702066-53702938	SK-N-SH_RA	brain:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702775-53702789
10	EP300	chr2:53702015-53702851	SK-N-SH_RA	brain:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702775-53702789
11	EP300	chr2:53702404-53703033	SK-N-SH	brain:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702775-53702789
12	EP300	chr2:53702162-53703347	Hela-S3	cervix:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702775-53702789
13	FOS	chr2:53702367-53703274	MCF10A-Er-Src	breast:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
14	FOS	chr2:53702437-53703208	MCF10A-Er-Src	breast:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
15	FOS	chr2:53702444-53702925	MCF10A-Er-Src	breast:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
16	FOS	chr2:53702446-53702903	MCF10A-Er-Src	breast:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
17	FOS	chr2:53702426-53703226	Hela-S3	cervix:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
18	FOSL1	chr2:53702228-53703059	HCT-116	colon:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
19	FOSL1	chr2:53701991-53703162	HCT-116	colon:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
20	FOSL2	chr2:53702376-53702995	SK-N-SH	brain:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
21	FOSL2	chr2:53702361-53702899	MCF-7	breast:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
22	GATA3	chr2:53702401-53702871	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr2:53702310-53702828	MCF-7	breast:	n/a	n/a
24	GATA3	chr2:53702286-53702951	SK-N-SH	brain:	n/a	n/a
25	JUN	chr2:53702115-53703281	Hela-S3	cervix:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
26	JUND	chr2:53702366-53702975	SK-N-SH	brain:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
27	JUND	chr2:53702441-53702969	SK-N-SH	brain:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
28	JUND	chr2:53702170-53703064	HCT-116	colon:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
29	JUND	chr2:53702141-53703167	HCT-116	colon:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
30	JUND	chr2:53702072-53703331	Hela-S3	cervix:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
31	MAX	chr2:53702235-53703052	HCT-116	colon:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702341-53702350
32	MAX	chr2:53702109-53703268	Hela-S3	cervix:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702341-53702350
33	MAX	chr2:53702106-53703102	Hela-S3	cervix:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702341-53702350
34	MYC	chr2:53702444-53702863	MCF10A-Er-Src	breast:	n/a	chr2:53702608-53702617 chr2:53702607-53702616
35	MYC	chr2:53702457-53702879	Hela-S3	cervix:	n/a	chr2:53702608-53702617 chr2:53702607-53702616
36	NFYB	chr2:53702482-53702847	Hela-S3	cervix:	n/a	n/a
37	NR2F2	chr2:53702331-53702818	MCF-7	breast:	n/a	n/a
38	PBX3	chr2:53702109-53702919	SK-N-SH	brain:	n/a	n/a
39	PBX3	chr2:53702100-53702917	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr2:53702458-53702899	HCT-116	colon:	n/a	n/a
41	POLR2A	chr2:53702572-53702897	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr2:53702323-53702917	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr2:53702129-53702919	Hela-S3	cervix:	n/a	chr2:53702376-53702383
44	RCOR1	chr2:53702158-53703301	Hela-S3	cervix:	n/a	n/a
45	RFX5	chr2:53702114-53703158	Hela-S3	cervix:	n/a	n/a
46	RXRA	chr2:53702287-53702979	SK-N-SH	brain:	n/a	chr2:53702607-53702616 chr2:53702608-53702617
47	SIN3AK20	chr2:53702196-53703060	HCT-116	colon:	n/a	n/a
48	SIN3AK20	chr2:53702281-53702967	HCT-116	colon:	n/a	n/a
49	SMC3	chr2:53702157-53703209	Hela-S3	cervix:	n/a	n/a
50	SP1	chr2:53702226-53703300	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53691365..53693137-chr2:53701304..53703137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251942	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 63 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199870965	chr2:53702768-53702769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53698000-53706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:53700000-53703000	Enhancers	Hela-S3	cervix
3	chr2:53700400-53704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:53701200-53704000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:53702000-53703200	Enhancers	NHDF-Ad	bronchial
6	chr2:53702200-53703200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:53702200-53703200	Enhancers	A549	lung
8	chr2:53702200-53703200	Enhancers	NHLF	lung
9	chr2:53702200-53703400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:53702200-53703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:53702200-53703600	Enhancers	NH-A	brain
12	chr2:53702200-53704000	Enhancers	HMEC	breast
13	chr2:53702200-53704200	Enhancers	NHEK	skin
14	chr2:53702400-53703200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:53702600-53703000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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