Variant report

Variant	nsv564574
Chromosome Location	chr14:42982113-42992844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 387 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8016423	chr14:42982113-42982114	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553882610	chr14:42982166-42982167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185748066	chr14:42982211-42982212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546067346	chr14:42982214-42982215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200045689	chr14:42982217-42982218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139484587	chr14:42982228-42982229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34908122	chr14:42982263-42982264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576084793	chr14:42982279-42982280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543476763	chr14:42982294-42982295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375162561	chr14:42982295-42982296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149593047	chr14:42982331-42982332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35273778	chr14:42982336-42982337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79570243	chr14:42982347-42982348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559859001	chr14:42982388-42982389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533402415	chr14:42982394-42982395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368913836	chr14:42982396-42982397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543819433	chr14:42982417-42982418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558024169	chr14:42982503-42982504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190519021	chr14:42982514-42982515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568057005	chr14:42982524-42982525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1499381	chr14:42982525-42982526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567322374	chr14:42982535-42982536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550534897	chr14:42982583-42982584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181525413	chr14:42982606-42982607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186257501	chr14:42982613-42982614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17113111	chr14:42982664-42982665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4905781	chr14:42982701-42982702	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs114857691	chr14:42982744-42982745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576369336	chr14:42982746-42982747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188521470	chr14:42982755-42982756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181290203	chr14:42982843-42982844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148456418	chr14:42982887-42982888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17113115	chr14:42982934-42982935	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559232262	chr14:42982956-42982957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142616600	chr14:42982987-42982988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551724318	chr14:42983029-42983030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114742375	chr14:42983070-42983071	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs12437117	chr14:42983095-42983096	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs567310317	chr14:42983097-42983098	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs73326739	chr14:42983111-42983112	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547048091	chr14:42983118-42983119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185204069	chr14:42983161-42983162	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539139074	chr14:42983181-42983182	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs191103534	chr14:42983187-42983188	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs151021566	chr14:42983230-42983231	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs140596144	chr14:42983313-42983314	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs17113119	chr14:42983324-42983325	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181025398	chr14:42983336-42983337	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs542149031	chr14:42983339-42983340	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs67288382	chr14:42983342-42983343	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42978000-42982200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr14:42978000-42983000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:42982000-42984600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:42982200-42984200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:42982400-42984000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:42982400-42984200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:42982600-42983000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr14:42982600-42983600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:42982600-42984000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:42982800-42983400	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:42982800-42984800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:42983000-42983400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:42983000-42983400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:42983000-42984200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:42983400-42984000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:42983400-42987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:42984200-42987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:42987200-42987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:42987200-42987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:42987200-42987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:42987600-42992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:42987800-42988000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr14:42988000-42991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:42992200-42994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:42992800-42993200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:42992800-42993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:42992800-42993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:42992800-42993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:42992800-42993200	Enhancers	Brain Anterior Caudate	brain
30	chr14:42992800-42993400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:42992800-42993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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