Variant report

Variant	nsv974484
Chromosome Location	chr14:41087491-41090886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61986812	chr14:41087509-41087510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74688787	chr14:41087517-41087518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535657244	chr14:41087582-41087583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116260676	chr14:41087614-41087615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17111024	chr14:41087616-41087617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190655337	chr14:41087629-41087630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72621004	chr14:41087635-41087636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544244673	chr14:41087639-41087640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540546784	chr14:41087658-41087659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560169545	chr14:41087694-41087695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529125180	chr14:41087710-41087711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542452213	chr14:41087833-41087834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182831420	chr14:41087836-41087837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531314203	chr14:41087866-41087867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10162438	chr14:41087891-41087892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79189625	chr14:41087915-41087916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527270848	chr14:41088031-41088032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564514461	chr14:41088049-41088050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547306166	chr14:41088056-41088057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149905009	chr14:41088095-41088096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187575934	chr14:41088104-41088105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192026317	chr14:41088117-41088118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569435495	chr14:41088118-41088119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538360846	chr14:41088236-41088237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558258333	chr14:41088274-41088275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578093942	chr14:41088291-41088292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35100665	chr14:41088305-41088306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397853357	chr14:41088311-41088312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540254467	chr14:41088426-41088427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1959265	chr14:41088544-41088545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573854165	chr14:41088582-41088583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76431044	chr14:41088587-41088588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572678071	chr14:41088609-41088610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145519811	chr14:41088610-41088611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145317878	chr14:41088684-41088685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149195673	chr14:41088701-41088702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149851874	chr14:41088711-41088712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs398043743	chr14:41088714-41088715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35694215	chr14:41088723-41088724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397852649	chr14:41088724-41088725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202103315	chr14:41088725-41088726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77065852	chr14:41088726-41088727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112008795	chr14:41088730-41088731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374631418	chr14:41088733-41088734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74046421	chr14:41088734-41088735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551789394	chr14:41088745-41088746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537466317	chr14:41088781-41088782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542232448	chr14:41088788-41088789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531196756	chr14:41088791-41088792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183908846	chr14:41088805-41088806	Weak transcription	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41083400-41088000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:41084200-41088000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:41084400-41088000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:41084400-41088200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:41084800-41088200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:41085000-41088000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:41085400-41088000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:41086800-41088000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:41087600-41087800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:41088000-41089600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:41089600-41089800	Enhancers	HUES48 Cell Line	embryonic stem cell

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