Variant report

Variant	nsv1041332
Chromosome Location	chr14:38934056-38951014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 473 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181808212	chr14:38937120-38937121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572037329	chr14:38937123-38937124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375871928	chr14:38937125-38937126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4366619	chr14:38937149-38937150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554310929	chr14:38937150-38937151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574303672	chr14:38937174-38937175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567908504	chr14:38937625-38937626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541741680	chr14:38937662-38937663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561609886	chr14:38937665-38937666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538576524	chr14:38937693-38937694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs530300369	chr14:38937701-38937702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs117042732	chr14:38937733-38937734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs563928867	chr14:38937741-38937742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532077761	chr14:38937750-38937751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs552261931	chr14:38937758-38937759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565292584	chr14:38937816-38937817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190190906	chr14:38937880-38937881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372808803	chr14:38937903-38937904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558688691	chr14:38937949-38937950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577078287	chr14:38937967-38937968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67402173	chr14:38937979-38937980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537371524	chr14:38937983-38937984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556841269	chr14:38938075-38938076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533615864	chr14:38938103-38938104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570634820	chr14:38938114-38938115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538710011	chr14:38938153-38938154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559138860	chr14:38938185-38938186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370002786	chr14:38938198-38938199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572463889	chr14:38938207-38938208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541473215	chr14:38938260-38938261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555279855	chr14:38938261-38938262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4374078	chr14:38938273-38938274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs544114175	chr14:38938274-38938275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563692472	chr14:38938360-38938361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376359542	chr14:38938362-38938363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572741447	chr14:38938394-38938395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182560071	chr14:38938458-38938459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150170300	chr14:38938489-38938490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528053892	chr14:38938613-38938614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547752649	chr14:38938671-38938672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35563420	chr14:38938681-38938682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567731010	chr14:38938686-38938687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538734552	chr14:38938687-38938688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114042232	chr14:38938709-38938710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187258937	chr14:38938713-38938714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116406093	chr14:38938729-38938730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541027986	chr14:38938760-38938761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559079632	chr14:38938762-38938763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115746458	chr14:38938767-38938768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371452673	chr14:38938788-38938789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38937000-38937200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:38937600-38937800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:38937800-38944000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:38938200-38939800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:38944000-38944400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:38946200-38949200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:38949200-38975200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:38950800-38952200	Enhancers	Hela-S3	cervix
9	chr14:38951000-38951600	Enhancers	NHLF	lung

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