Variant report

Variant	esv3435749
Chromosome Location	chr14:39679616-39680086
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	chr14:39679361-39679777	MCF-7	breast:	n/a	n/a
2	CEBPB	chr14:39679419-39679747	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:39679408-39679716	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr14:39679437-39679623	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:39679495-39679634	K562	blood:	n/a	n/a
6	FOXA1	chr14:39679416-39679783	HepG2	liver:	n/a	n/a
7	FOXA1	chr14:39679360-39679788	HepG2	liver:	n/a	n/a
8	FOXA2	chr14:39679424-39679721	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:39679557-39679751	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000258671	TF binding region
ENSG00000270503	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142994887	chr14:39679622-39679623	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs528084151	chr14:39679661-39679662	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs372346979	chr14:39679662-39679663	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs397758712	chr14:39679673-39679674	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs532288060	chr14:39679674-39679675	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs189220842	chr14:39679707-39679708	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs7146289	chr14:39679778-39679779	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551857802	chr14:39679782-39679783	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs571463737	chr14:39679789-39679790	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs554225904	chr14:39679813-39679814	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs7145343	chr14:39679855-39679856	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7145345	chr14:39679860-39679861	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536580452	chr14:39679872-39679873	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs34898859	chr14:39679882-39679883	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs556589970	chr14:39679906-39679907	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs149796267	chr14:39679907-39679908	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs7145048	chr14:39679917-39679918	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112268459	chr14:39679921-39679922	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs559103544	chr14:39679925-39679926	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs36113383	chr14:39679950-39679951	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs572119461	chr14:39679952-39679953	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs12436250	chr14:39679980-39679981	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs371979227	chr14:39679985-39679986	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs541198806	chr14:39679997-39679998	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs577205940	chr14:39680001-39680002	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs35561965	chr14:39680009-39680010	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs529990824	chr14:39680031-39680032	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs576758572	chr14:39680081-39680082	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	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
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39674000-39679800	Weak transcription	A549	lung
2	chr14:39674000-39705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:39679400-39679800	Bivalent Enhancer	HepG2	liver
4	chr14:39679400-39680600	Enhancers	Hela-S3	cervix
5	chr14:39679800-39680600	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr14:39679800-39682000	Enhancers	A549	lung
7	chr14:39680000-39680400	Enhancers	HUES6 Cell Line	embryonic stem cell

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