Variant report

Variant	esv2645088
Chromosome Location	chr14:40379463-40381013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566810519	chr14:40379488-40379489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541199525	chr14:40379524-40379525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561155511	chr14:40379527-40379528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530271233	chr14:40379535-40379536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566792542	chr14:40379564-40379565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372835550	chr14:40379595-40379596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543894331	chr14:40379603-40379604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58445283	chr14:40379629-40379630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532519382	chr14:40379675-40379676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370076862	chr14:40379738-40379739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372647352	chr14:40379773-40379774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552303861	chr14:40379810-40379811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565949737	chr14:40379822-40379823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528395138	chr14:40379848-40379849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548366817	chr14:40379875-40379876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550762246	chr14:40379890-40379891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184420204	chr14:40379899-40379900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs981318	chr14:40379904-40379905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189814922	chr14:40379907-40379908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570489811	chr14:40379960-40379961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114961579	chr14:40379971-40379972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182438716	chr14:40379974-40379975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549264457	chr14:40379975-40379976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185726556	chr14:40379977-40379978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541316822	chr14:40380013-40380014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554889446	chr14:40380069-40380070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567492335	chr14:40380079-40380080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574953992	chr14:40380104-40380105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543688218	chr14:40380134-40380135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80217499	chr14:40380310-40380311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563767095	chr14:40380327-40380328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190538203	chr14:40380362-40380363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201686714	chr14:40380475-40380476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73290961	chr14:40380510-40380511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180985359	chr14:40380533-40380534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538067703	chr14:40380543-40380544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114730456	chr14:40380572-40380573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528537717	chr14:40380620-40380621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555861760	chr14:40380655-40380656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112781555	chr14:40380678-40380679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76171903	chr14:40380696-40380697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527293428	chr14:40380707-40380708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147892971	chr14:40380725-40380726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185168382	chr14:40381007-40381008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40377200-40390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:40379000-40379800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:40379800-40381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:40381000-40381800	Enhancers	GM12878-XiMat	blood

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