Variant report

Variant	esv3407060
Chromosome Location	chr14:81469101-81469433
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	FOSL2	chr14:81469049-81469215	HepG2	liver:	n/a	n/a
2	FOXA2	chr14:81468892-81469349	A549	lung:	n/a	n/a
3	PAX5	chr14:81469066-81469197	GM12878	blood:	n/a	n/a
4	PBX3	chr14:81469013-81469183	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:81469130-81469167	Hela-S3	cervix:	n/a	n/a
6	REST	chr14:81469086-81469179	PANC-1	pancreas:	n/a	n/a
7	SIN3AK20	chr14:81469087-81469177	HepG2	liver:	n/a	n/a
8	SPI1	chr14:81469079-81469184	GM12878	blood:	n/a	n/a
9	USF1	chr14:81469083-81469185	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RPL17P3	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200281092	chr14:81469126-81469127	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199677500	chr14:81469128-81469129	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs12889568	chr14:81469129-81469130	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201833602	chr14:81469130-81469131	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs373832725	chr14:81469152-81469153	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs374950501	chr14:81469154-81469155	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs56340312	chr14:81469168-81469169	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374612939	chr14:81469169-81469170	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562190978	chr14:81469174-81469175	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534922737	chr14:81469242-81469243	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577195908	chr14:81469322-81469323	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7151548	chr14:81469340-81469341	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs55699123	chr14:81469349-81469350	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs190652543	chr14:81469420-81469421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560013050	chr14:81469426-81469427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527334046	chr14:81469427-81469428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81455800-81492200	Weak transcription	Fetal Thymus	thymus
2	chr14:81467000-81470400	Strong transcription	Dnd41	blood
3	chr14:81468000-81486600	Weak transcription	Thymus	Thymus
4	chr14:81468400-81469600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:81468400-81472600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:81469000-81469200	Bivalent Enhancer	Primary T cells from cord blood	blood
7	chr14:81469000-81469200	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:81469000-81469200	Enhancers	HSMM	muscle
9	chr14:81469000-81469200	Flanking Active TSS	K562	blood
10	chr14:81469200-81469400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr14:81469200-81469400	Enhancers	K562	blood
12	chr14:81469400-81470800	Weak transcription	K562	blood

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