Variant report

Variant	nsv523250
Chromosome Location	chr14:41512121-41571738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 799 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10872940	chr14:41524820-41524821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77904943	chr14:41524829-41524830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188158508	chr14:41524904-41524905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530749758	chr14:41524944-41524945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139120800	chr14:41524990-41524991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544585839	chr14:41525024-41525025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78557877	chr14:41525036-41525037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11157190	chr14:41525073-41525074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11157191	chr14:41525146-41525147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538748167	chr14:41525156-41525157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368307906	chr14:41526018-41526019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551064422	chr14:41526030-41526031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4899860	chr14:41526076-41526077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4904218	chr14:41526136-41526137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112678894	chr14:41526174-41526175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189021756	chr14:41526184-41526185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573530383	chr14:41526192-41526193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192517630	chr14:41526207-41526208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552969624	chr14:41526212-41526213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368110298	chr14:41526227-41526228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72676060	chr14:41526320-41526321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556755600	chr14:41526337-41526338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34653470	chr14:41526350-41526351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372940685	chr14:41526356-41526357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371666827	chr14:41526393-41526394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375966087	chr14:41526404-41526405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563010943	chr14:41526433-41526434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575107156	chr14:41526505-41526506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542367345	chr14:41526526-41526527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386776758	chr14:41526532-41526533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140858212	chr14:41526543-41526544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2185995	chr14:41526548-41526549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184388608	chr14:41526594-41526595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149692344	chr14:41526599-41526600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189741001	chr14:41526610-41526611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145836842	chr14:41526622-41526623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191843792	chr14:41526681-41526682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34147118	chr14:41526685-41526686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566938937	chr14:41526693-41526694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143833883	chr14:41526707-41526708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558961185	chr14:41526772-41526773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142350687	chr14:41526854-41526855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116106236	chr14:41526862-41526863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2154105	chr14:41526881-41526882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2154106	chr14:41526886-41526887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146287993	chr14:41526896-41526897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563512011	chr14:41526900-41526901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35624387	chr14:41526901-41526902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532405542	chr14:41526914-41526915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117337920	chr14:41526923-41526924	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41524800-41525200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:41526000-41526400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr14:41526200-41526600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:41526200-41527000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:41526400-41526800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:41530600-41530800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:41551600-41551800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:41551800-41557000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:41556800-41557000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:41557000-41557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:41557000-41558000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:41558000-41568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:41562200-41567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:41562800-41567200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:41566800-41567200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:41567200-41567400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:41567200-41569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:41568400-41569200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:41568600-41569200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:41568600-41569200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:41569000-41569200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:41569200-41572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:41569200-41573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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