Variant report

Variant	esv2753875
Chromosome Location	chr14:41825250-41853550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373328684	chr14:41825268-41825269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547911847	chr14:41825272-41825273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10483529	chr14:41825276-41825277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192423047	chr14:41825301-41825302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558475427	chr14:41825313-41825314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17111923	chr14:41825345-41825346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7160616	chr14:41825365-41825366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556479437	chr14:41825402-41825403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386776795	chr14:41825426-41825427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7160943	chr14:41825428-41825429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200792003	chr14:41825440-41825441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7161082	chr14:41825472-41825473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183874362	chr14:41825514-41825515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564550461	chr14:41825521-41825522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17111924	chr14:41825602-41825603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538127208	chr14:41825669-41825670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373180171	chr14:41825704-41825705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543741321	chr14:41825743-41825744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1431040	chr14:41825752-41825753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188039853	chr14:41825768-41825769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547790487	chr14:41825788-41825789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189143954	chr14:41837236-41837237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34223468	chr14:41837237-41837238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530340644	chr14:41837248-41837249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531144822	chr14:41837266-41837267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548846645	chr14:41837324-41837325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180905914	chr14:41837559-41837560	ZNF genes & repeats Flanking Bivalent TSS/Enh	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
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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41824400-41825800	Enhancers	Fetal Lung	lung
2	chr14:41837200-41837400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:41837400-41837600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:41837400-41837600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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