Variant report

Variant	esv2546243
Chromosome Location	chr14:42151965-42153410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146288471	chr14:42152002-42152003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571097515	chr14:42152068-42152069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536369701	chr14:42152078-42152079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548243176	chr14:42152080-42152081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538721592	chr14:42152117-42152118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11628299	chr14:42152124-42152125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114888929	chr14:42152160-42152161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536208670	chr14:42152171-42152172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558527621	chr14:42152258-42152259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554275492	chr14:42152285-42152286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181506790	chr14:42152334-42152335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370613292	chr14:42152372-42152373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551306803	chr14:42152414-42152415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573044417	chr14:42152441-42152442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540180097	chr14:42152451-42152452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564731625	chr14:42152456-42152457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187662784	chr14:42152478-42152479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576664815	chr14:42152588-42152589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544280776	chr14:42152595-42152596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190393338	chr14:42152636-42152637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117344846	chr14:42152638-42152639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548525042	chr14:42152678-42152679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7158181	chr14:42152742-42152743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147874512	chr14:42152748-42152749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552938347	chr14:42152784-42152785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571034686	chr14:42152846-42152847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527954325	chr14:42152867-42152868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534878728	chr14:42152871-42152872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538412185	chr14:42152874-42152875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550411633	chr14:42152885-42152886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547819042	chr14:42152926-42152927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535965831	chr14:42152927-42152928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554544260	chr14:42152973-42152974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567960611	chr14:42152998-42152999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77197708	chr14:42153033-42153034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533822919	chr14:42153155-42153156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2121707	chr14:42153162-42153163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182226260	chr14:42153191-42153192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42148200-42153200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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