Variant report

Variant	nsv1049795
Chromosome Location	chr14:41702569-41739728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 733 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1612141	chr14:41702598-41702599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs545195082	chr14:41702614-41702615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563289241	chr14:41702621-41702622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1611914	chr14:41702683-41702684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562135983	chr14:41702686-41702687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190431632	chr14:41702787-41702788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17111635	chr14:41702854-41702855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76726187	chr14:41702868-41702869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563747521	chr14:41702885-41702886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546557882	chr14:41702910-41702911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565050917	chr14:41702946-41702947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140100284	chr14:41702970-41702971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200052025	chr14:41702989-41702990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200401534	chr14:41702990-41702991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569343637	chr14:41702998-41702999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536988791	chr14:41703001-41703002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546391103	chr14:41703016-41703017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567140159	chr14:41703053-41703054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142027153	chr14:41703057-41703058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55656233	chr14:41703068-41703069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114215358	chr14:41703080-41703081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2799788	chr14:41703105-41703106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117445162	chr14:41703145-41703146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4616188	chr14:41703190-41703191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546931055	chr14:41703191-41703192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142228885	chr14:41703273-41703274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542781198	chr14:41703280-41703281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554461875	chr14:41703286-41703287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112502180	chr14:41703306-41703307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181701898	chr14:41703320-41703321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115799955	chr14:41703358-41703359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185127578	chr14:41703415-41703416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532680377	chr14:41703482-41703483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1778383	chr14:41703529-41703530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117095219	chr14:41703535-41703536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530252349	chr14:41703536-41703537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1779526	chr14:41703549-41703550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4128089	chr14:41703559-41703560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527939449	chr14:41703600-41703601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546662630	chr14:41703643-41703644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539666562	chr14:41703646-41703647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538758934	chr14:41703662-41703663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556802595	chr14:41703736-41703737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1782188	chr14:41703816-41703817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190403049	chr14:41703946-41703947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554300402	chr14:41703969-41703970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181836294	chr14:41703990-41703991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540127439	chr14:41703997-41703998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185377752	chr14:41704005-41704006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577147994	chr14:41704047-41704048	Enhancers	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41700400-41703800	Weak transcription	Liver	Liver
2	chr14:41703800-41705600	Enhancers	Liver	Liver
3	chr14:41715400-41716000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:41715400-41716000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:41722000-41722400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:41722000-41722400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:41722000-41723000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:41722000-41723200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:41723200-41734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:41726400-41727200	Enhancers	Liver	Liver
11	chr14:41734200-41734600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:41736400-41737800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:41736600-41738400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr14:41738000-41738400	Active TSS	Fetal Heart	heart

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