Variant report

Variant	nsv456217
Chromosome Location	chr14:41093228-41118098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:41113572..41115996-chr14:41117287..41119749,2	MCF-7	breast:
2	chr14:41113572..41115996-chr14:41117287..41119749,2	MCF-7	breast:

Extended variants
information (count: 426 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373257070	chr14:41094009-41094010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547771540	chr14:41094050-41094051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12883353	chr14:41094066-41094067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76898701	chr14:41094069-41094070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs8008727	chr14:41094112-41094113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376191889	chr14:41094125-41094126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537953804	chr14:41094128-41094129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549959574	chr14:41094139-41094140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529735598	chr14:41094153-41094154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs8009182	chr14:41094162-41094163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72621005	chr14:41094181-41094182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193153070	chr14:41094198-41094199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370252332	chr14:41094235-41094236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539425450	chr14:41094300-41094301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144873558	chr14:41094304-41094305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75851916	chr14:41094305-41094306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28547549	chr14:41094319-41094320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561895376	chr14:41094339-41094340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367629138	chr14:41094387-41094388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573887520	chr14:41094396-41094397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568200571	chr14:41094615-41094616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535274427	chr14:41094624-41094625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187700959	chr14:41094701-41094702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565804406	chr14:41094709-41094710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539732797	chr14:41094730-41094731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191390595	chr14:41094755-41094756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74046434	chr14:41094756-41094757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537089523	chr14:41094764-41094765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74043894	chr14:41094790-41094791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369570131	chr14:41094839-41094840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573824138	chr14:41094851-41094852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183694387	chr14:41094866-41094867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553546021	chr14:41094889-41094890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78080823	chr14:41094918-41094919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545683751	chr14:41094921-41094922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371637884	chr14:41094927-41094928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535264662	chr14:41094971-41094972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539385287	chr14:41094987-41094988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116440540	chr14:41094992-41094993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531321121	chr14:41094999-41095000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543473741	chr14:41095096-41095097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115198754	chr14:41095100-41095101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570664562	chr14:41095117-41095118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141996287	chr14:41095118-41095119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376544744	chr14:41095119-41095120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529001498	chr14:41095123-41095124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547237949	chr14:41095124-41095125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112096134	chr14:41095125-41095126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74043895	chr14:41095131-41095132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71102118	chr14:41095145-41095146	Weak transcription	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41094000-41094400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:41094600-41098600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:41097800-41098000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:41097800-41098200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:41098000-41098400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:41098000-41098400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:41098000-41098600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:41098200-41098400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:41098200-41099400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:41098200-41099600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:41098200-41100400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:41098400-41099000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:41098400-41099400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr14:41098400-41099600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:41098400-41099800	Active TSS	K562	blood
16	chr14:41098400-41100400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:41098400-41100600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:41098600-41099400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr14:41098600-41099600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr14:41098600-41099800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr14:41098600-41099800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:41098600-41099800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:41098600-41099800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:41098600-41100400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:41098800-41099000	Enhancers	Placenta	Placenta
26	chr14:41098800-41099400	Active TSS	Right Ventricle	heart
27	chr14:41098800-41099400	Active TSS	Thymus	Thymus
28	chr14:41099000-41099400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:41099000-41099400	Flanking Active TSS	Placenta	Placenta
30	chr14:41099000-41099400	Active TSS	Pancreas	Pancrea
31	chr14:41099200-41099600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr14:41099400-41099600	Active TSS	Placenta	Placenta
33	chr14:41099400-41099800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr14:41099600-41099800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:41099600-41100000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:41099800-41100000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr14:41100000-41100200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:41100200-41100400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:41100400-41100800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:41100600-41101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:41100800-41101200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:41101000-41101200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:41101200-41102400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:41101200-41103800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:41102400-41102600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:41103800-41104000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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