Variant report

Variant	nsv519996
Chromosome Location	chr14:43344558-43350608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141834575	chr14:43349062-43349063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547379838	chr14:43349069-43349070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565926520	chr14:43349095-43349096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539086700	chr14:43349128-43349129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28753778	chr14:43349169-43349170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569440357	chr14:43349226-43349227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112112779	chr14:43349228-43349229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375969604	chr14:43349238-43349239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191141803	chr14:43349256-43349257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574173168	chr14:43349272-43349273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541564046	chr14:43349306-43349307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571846411	chr14:43349318-43349319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553398161	chr14:43349381-43349382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578187503	chr14:43349405-43349406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545462484	chr14:43349407-43349408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563660016	chr14:43349413-43349414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530894303	chr14:43349450-43349451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543167490	chr14:43349473-43349474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4906243	chr14:43349482-43349483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs116527171	chr14:43349488-43349489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111506450	chr14:43349490-43349491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565882439	chr14:43349493-43349494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147665015	chr14:43349513-43349514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371215706	chr14:43349573-43349574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375612022	chr14:43349586-43349587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115951436	chr14:43349615-43349616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569325763	chr14:43349684-43349685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536621818	chr14:43349805-43349806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75812678	chr14:43349823-43349824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567311834	chr14:43349826-43349827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142320579	chr14:43349828-43349829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553525584	chr14:43349836-43349837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11849297	chr14:43349875-43349876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539359069	chr14:43349878-43349879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371915171	chr14:43349891-43349892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143290717	chr14:43349908-43349909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375148786	chr14:43349974-43349975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543004721	chr14:43350003-43350004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11848370	chr14:43350036-43350037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535558035	chr14:43350148-43350149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114728888	chr14:43350174-43350175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540897090	chr14:43350193-43350194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559483571	chr14:43350194-43350195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371848583	chr14:43350217-43350218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182838370	chr14:43350223-43350224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368715489	chr14:43350245-43350246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58323101	chr14:43350275-43350276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551283056	chr14:43350285-43350286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563195066	chr14:43350303-43350304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148317102	chr14:43350339-43350340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43349000-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:43349200-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:43349600-43353600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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