Variant report

Variant	nsv428626
Chromosome Location	chr14:43098363-43098920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374639747	chr14:43098382-43098383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35775232	chr14:43098418-43098419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550135863	chr14:43098432-43098433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561875194	chr14:43098435-43098436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529319798	chr14:43098473-43098474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537396000	chr14:43098474-43098475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547999251	chr14:43098515-43098516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144186320	chr14:43098529-43098530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556927088	chr14:43098562-43098563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534095688	chr14:43098641-43098642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113656035	chr14:43098642-43098643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71411647	chr14:43098647-43098648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35083517	chr14:43098749-43098750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188606355	chr14:43098752-43098753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35080327	chr14:43098773-43098774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113122403	chr14:43098783-43098784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191056399	chr14:43098820-43098821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1909463	chr14:43098829-43098830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535506918	chr14:43098915-43098916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182941219	chr14:43098916-43098917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43095800-43099200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:43096000-43098800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:43097400-43098600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:43097600-43099000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:43097800-43098800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:43098800-43099200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:43098800-43102200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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