Variant report

Variant	esv3445464
Chromosome Location	chr14:40232725-40233191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115463502	chr14:40232725-40232726	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs541888274	chr14:40232788-40232789	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs186718225	chr14:40232801-40232802	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs574968588	chr14:40232805-40232806	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs377136681	chr14:40232854-40232855	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs543612936	chr14:40232866-40232867	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs145747807	chr14:40232878-40232879	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs556309662	chr14:40232885-40232886	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs72681317	chr14:40232886-40232887	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs190392222	chr14:40232887-40232888	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs370583871	chr14:40232915-40232916	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs528621993	chr14:40232922-40232923	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs182562922	chr14:40232925-40232926	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs36013290	chr14:40232953-40232954	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs568418606	chr14:40232981-40232982	Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs545130055	chr14:40233006-40233007	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs530735581	chr14:40233008-40233009	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs550766324	chr14:40233012-40233013	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs77192645	chr14:40233083-40233084	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs539728041	chr14:40233095-40233096	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs17109786	chr14:40233121-40233122	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566459471	chr14:40233172-40233173	Weak transcription Bivalent Enhancer	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
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40232000-40232800	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:40232000-40232800	Enhancers	Placenta	Placenta
3	chr14:40232200-40232800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:40232400-40233000	Enhancers	GM12878-XiMat	blood
5	chr14:40232600-40233000	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr14:40232800-40233000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:40233000-40233200	Bivalent Enhancer	HepG2	liver
8	chr14:40233000-40235400	Weak transcription	GM12878-XiMat	blood
9	chr14:40233000-40241600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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