Variant report

Variant	nsv977620
Chromosome Location	chr14:41810978-41817678
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	CTCF	chr14:41812722-41812833	GM13976	blood:	n/a	n/a
2	GATA3	chr14:41817162-41817412	SH-SY5Y	brain:	n/a	n/a
3	JUN	chr14:41813064-41813070	HepG2	liver:	n/a	n/a
4	MAFF	chr14:41813091-41813411	HepG2	liver:	n/a	chr14:41813244-41813262
5	MAFK	chr14:41813097-41813412	HepG2	liver:	n/a	chr14:41813247-41813258 chr14:41813247-41813258 chr14:41813245-41813259 chr14:41813246-41813261 chr14:41813246-41813257 chr14:41813246-41813262 chr14:41813246-41813257
6	MAFK	chr14:41813098-41813427	HepG2	liver:	n/a	chr14:41813247-41813258 chr14:41813247-41813258 chr14:41813245-41813259 chr14:41813246-41813261 chr14:41813246-41813257 chr14:41813246-41813262 chr14:41813246-41813257

Variant related genes	Relation type
ENSG00000221695	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377047399	chr14:41817166-41817167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs117842894	chr14:41817174-41817175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192604710	chr14:41817191-41817192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs71409999	chr14:41817242-41817243	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs28657626	chr14:41817263-41817264	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369914018	chr14:41817297-41817298	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554210784	chr14:41817360-41817361	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs71440734	chr14:41817370-41817371	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs398118112	chr14:41817377-41817378	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs150719931	chr14:41817394-41817395	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs138995653	chr14:41817433-41817434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117225853	chr14:41817505-41817506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145018182	chr14:41817542-41817543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183357449	chr14:41817551-41817552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs8008330	chr14:41817569-41817570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147601123	chr14:41817635-41817636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs8007175	chr14:41817660-41817661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41817200-41818600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:41817200-41818800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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