Variant report

Variant	nsv976300
Chromosome Location	chr14:82205532-82206726
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	chr14:82206352-82206390	GM20000	blood:	n/a	n/a
2	FOS	chr14:82205460-82205581	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr14:82205241-82205542	HepG2	liver:	n/a	chr14:82205390-82205399
4	MAFF	chr14:82205307-82205571	HepG2	liver:	n/a	chr14:82205451-82205469
5	MAFK	chr14:82205291-82205623	HepG2	liver:	n/a	n/a
6	MAFK	chr14:82205323-82205592	IMR90	lung:	n/a	n/a
7	MAFK	chr14:82205337-82205616	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:82205483-82205683	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEL1L-2	chr14:82206581-82206616	ENSG00000258718

Variant related genes	Relation type
ENSG00000258718	TF binding region
ENSG00000259035	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367768795	chr14:82205578-82205579	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535243635	chr14:82205594-82205595	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557048604	chr14:82205614-82205615	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575319274	chr14:82205620-82205621	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs545779004	chr14:82205633-82205634	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs116738310	chr14:82205655-82205656	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573080058	chr14:82205689-82205690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs207475011	chr14:82205712-82205713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1958227	chr14:82205713-82205714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147422801	chr14:82205732-82205733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117609051	chr14:82205770-82205771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544305419	chr14:82205803-82205804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8016451	chr14:82205828-82205829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs139454275	chr14:82205840-82205841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539003052	chr14:82205845-82205846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76815285	chr14:82205853-82205854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78283825	chr14:82205855-82205856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75640302	chr14:82205862-82205863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78806930	chr14:82205863-82205864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183468575	chr14:82205902-82205903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368179556	chr14:82205911-82205912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80245972	chr14:82205915-82205916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528015147	chr14:82205921-82205922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188194757	chr14:82205946-82205947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181149220	chr14:82205957-82205958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149876789	chr14:82205958-82205959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186469977	chr14:82205968-82205969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186415608	chr14:82206378-82206379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560330000	chr14:82206602-82206603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs527637613	chr14:82206603-82206604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82204600-82206000	Enhancers	Liver	Liver
2	chr14:82205200-82205800	Enhancers	Pancreatic Islets	Pancreatic Islet

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