Variant report

Variant	nsv519067
Chromosome Location	chr14:41709711-41727205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 228 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540512588	chr14:41715475-41715476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1778392	chr14:41715504-41715505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532885313	chr14:41715544-41715545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553789211	chr14:41715554-41715555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576116419	chr14:41715564-41715565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1782134	chr14:41715568-41715569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563144337	chr14:41715569-41715570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530533289	chr14:41715572-41715573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530832513	chr14:41715596-41715597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548914122	chr14:41715615-41715616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367783125	chr14:41715616-41715617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567293348	chr14:41715679-41715680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534704274	chr14:41715696-41715697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10605580	chr14:41715714-41715715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3985179	chr14:41715715-41715716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554029255	chr14:41715716-41715717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369681200	chr14:41715723-41715724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546509916	chr14:41715781-41715782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562575374	chr14:41715822-41715823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571086414	chr14:41715843-41715844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190078801	chr14:41715862-41715863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529448088	chr14:41715867-41715868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556852111	chr14:41715918-41715919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183046026	chr14:41715924-41715925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140132427	chr14:41715930-41715931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554939891	chr14:41715957-41715958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1782135	chr14:41716000-41716001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1627127	chr14:41722008-41722009	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141677760	chr14:41722011-41722012	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs183702379	chr14:41722038-41722039	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147055267	chr14:41722141-41722142	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73304703	chr14:41722183-41722184	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563003895	chr14:41722197-41722198	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs76387339	chr14:41722199-41722200	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530540464	chr14:41722220-41722221	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4288935	chr14:41722250-41722251	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561086934	chr14:41722274-41722275	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs151199899	chr14:41722295-41722296	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs34660338	chr14:41722328-41722329	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530175321	chr14:41722406-41722407	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs118004729	chr14:41722421-41722422	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140255878	chr14:41722422-41722423	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs150377987	chr14:41722425-41722426	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115280308	chr14:41722485-41722486	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs117156785	chr14:41722537-41722538	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs117653933	chr14:41722545-41722546	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs117598035	chr14:41722560-41722561	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559063181	chr14:41722587-41722588	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577526480	chr14:41722598-41722599	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186643450	chr14:41722620-41722621	Enhancers ZNF genes & repeats	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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41715400-41716000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:41715400-41716000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:41722000-41722400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:41722000-41722400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:41722000-41723000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:41722000-41723200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:41723200-41734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:41726400-41727200	Enhancers	Liver	Liver

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