Variant report

Variant	nsv977608
Chromosome Location	chr14:80698073-80700445
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	chr14:80698065-80698324	A549	lung:	n/a	n/a
2	FOXA1	chr14:80697998-80698394	A549	lung:	n/a	n/a
3	FOXA1	chr14:80698084-80698381	A549	lung:	n/a	n/a
4	JUN	chr14:80699959-80700012	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:80699389-80699554	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
DIO2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549199707	chr14:80698073-80698074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565923921	chr14:80698111-80698112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181367110	chr14:80698167-80698168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7154898	chr14:80698171-80698172	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186030816	chr14:80698186-80698187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531063169	chr14:80698222-80698223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs373299346	chr14:80698223-80698224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190146403	chr14:80698307-80698308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs202085844	chr14:80698364-80698365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567603831	chr14:80698387-80698388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs368283963	chr14:80699433-80699434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574060964	chr14:80699549-80699550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs137959901	chr14:80700032-80700033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538908371	chr14:80700069-80700070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552128180	chr14:80700096-80700097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143409944	chr14:80700108-80700109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75557897	chr14:80700118-80700119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372866848	chr14:80700189-80700190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545172268	chr14:80700246-80700247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574158246	chr14:80700249-80700250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533561598	chr14:80700280-80700281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553704697	chr14:80700339-80700340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187219457	chr14:80700350-80700351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7155666	chr14:80700351-80700352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190902599	chr14:80700393-80700394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565394312	chr14:80700417-80700418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80700000-80700200	Enhancers	Stomach Mucosa	stomach
2	chr14:80700200-80703400	Weak transcription	Stomach Mucosa	stomach

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