Variant report

Variant	esv3405302
Chromosome Location	chr4:125173674-125173851
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	MAFF	chr4:125173601-125173895	HepG2	liver:	n/a	n/a
2	MAFK	chr4:125173597-125173887	IMR90	lung:	n/a	n/a
3	MAFK	chr4:125173702-125173711	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr4:125173593-125173899	HepG2	liver:	n/a	n/a
5	MAFK	chr4:125173581-125174155	HepG2	liver:	n/a	chr4:125174071-125174082 chr4:125174069-125174083 chr4:125174073-125174090 chr4:125174070-125174086

Variant related genes	Relation type
ENSG00000249837	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112421820	chr4:125173683-125173684	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs183264141	chr4:125173688-125173689	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs572536594	chr4:125173719-125173720	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs28475344	chr4:125173726-125173727	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371257602	chr4:125173727-125173728	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570179909	chr4:125173733-125173734	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376889133	chr4:125173734-125173735	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs147821346	chr4:125173747-125173748	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62320449	chr4:125173749-125173750	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371819837	chr4:125173766-125173767	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544139195	chr4:125173780-125173781	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200226208	chr4:125173797-125173798	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548320659	chr4:125173799-125173800	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201666710	chr4:125173803-125173804	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs35069724	chr4:125173804-125173805	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs57226660	chr4:125173805-125173806	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs397879324	chr4:125173816-125173817	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs148546422	chr4:125173824-125173825	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125173600-125174400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:125173800-125174400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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