Variant report

Variant	nsv1054478
Chromosome Location	chr14:41157794-41219377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:40886743..40887636-chr14:41183711..41184631,4	MCF-7	breast:
2	chr14:40886812..40887593-chr14:41183727..41184438,2	MCF-7	breast:
3	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:
4	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:

Extended variants
information (count: 1573 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1573 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76486266	chr14:41157805-41157806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577320055	chr14:41157849-41157850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183071402	chr14:41157905-41157906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554381126	chr14:41157925-41157926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572682986	chr14:41157929-41157930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540100438	chr14:41157968-41157969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558416207	chr14:41158030-41158031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576708343	chr14:41158061-41158062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544171148	chr14:41158139-41158140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36104275	chr14:41158254-41158255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574159980	chr14:41158360-41158361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551262948	chr14:41158375-41158376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74046117	chr14:41158381-41158382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148302850	chr14:41158411-41158412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141452784	chr14:41158417-41158418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376884923	chr14:41158443-41158444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10133881	chr14:41158451-41158452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564385631	chr14:41158570-41158571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531543954	chr14:41158648-41158649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147490391	chr14:41158649-41158650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144180405	chr14:41158711-41158712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186817111	chr14:41158716-41158717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3031186	chr14:41158727-41158728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529362728	chr14:41158808-41158809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7150299	chr14:41158906-41158907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566216086	chr14:41158933-41158934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531573291	chr14:41158939-41158940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540017662	chr14:41158945-41158946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116847391	chr14:41158968-41158969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10149023	chr14:41158994-41158995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565188478	chr14:41159084-41159085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191222772	chr14:41159094-41159095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574098180	chr14:41159119-41159120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541484018	chr14:41159153-41159154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527776092	chr14:41159166-41159167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553448288	chr14:41159173-41159174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571835727	chr14:41159175-41159176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76209866	chr14:41159178-41159179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373417293	chr14:41159266-41159267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184094272	chr14:41159280-41159281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138810671	chr14:41159301-41159302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72671604	chr14:41159317-41159318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529298438	chr14:41159319-41159320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561590141	chr14:41159343-41159344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373617002	chr14:41159415-41159416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189675116	chr14:41159423-41159424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533297941	chr14:41159537-41159538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192846708	chr14:41159538-41159539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570175367	chr14:41159546-41159547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537700954	chr14:41159550-41159551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41156200-41157800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:41157400-41158000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:41158000-41163200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:41158600-41164200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:41162400-41163800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:41162400-41164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:41163000-41163600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:41163200-41163600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:41163200-41163800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:41163600-41164400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:41163800-41164000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:41164000-41165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:41164200-41165200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:41164400-41164600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:41164400-41165200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:41164400-41165200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:41164400-41165200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:41164400-41166400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:41164600-41165000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:41165000-41165400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:41171600-41182600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:41174200-41174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:41174600-41175800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:41175200-41175800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:41175800-41186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:41177000-41177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:41181600-41185600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:41182600-41183200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:41185600-41186000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:41185800-41187800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:41186000-41186400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:41186400-41187000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:41186400-41187000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:41186600-41187400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr14:41190800-41195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:41191400-41192200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:41205200-41207600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:41206400-41207200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:41206400-41207400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr14:41206600-41207200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:41206600-41207400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr14:41207200-41210400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:41207800-41211000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:41211000-41213200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:41211200-41211400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:41211200-41211800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr14:41211200-41212200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:41211400-41215000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:41211400-41216200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:41213200-41216400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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