Variant report

Variant	nsv1048773
Chromosome Location	chr14:40360366-40433422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1082 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564894572	chr14:40360388-40360389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74903471	chr14:40360390-40360391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193123503	chr14:40360402-40360403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183885193	chr14:40360440-40360441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62014479	chr14:40360448-40360449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77656313	chr14:40360451-40360452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569095561	chr14:40360470-40360471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531397874	chr14:40360484-40360485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188730401	chr14:40360489-40360490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570994356	chr14:40360544-40360545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372126732	chr14:40360608-40360609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576230482	chr14:40360773-40360774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553323315	chr14:40360832-40360833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556408682	chr14:40360834-40360835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567255835	chr14:40360862-40360863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143960355	chr14:40360982-40360983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556023535	chr14:40361032-40361033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191454643	chr14:40361042-40361043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575877411	chr14:40361077-40361078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544804175	chr14:40361086-40361087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558402793	chr14:40361089-40361090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183543350	chr14:40361111-40361112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116813674	chr14:40361115-40361116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146777259	chr14:40361135-40361136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376127736	chr14:40361150-40361151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188677936	chr14:40361193-40361194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79398586	chr14:40361206-40361207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369154104	chr14:40361287-40361288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148363889	chr14:40361290-40361291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141600186	chr14:40361292-40361293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191538782	chr14:40361332-40361333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571130694	chr14:40361494-40361495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527337304	chr14:40361510-40361511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184407528	chr14:40361529-40361530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547460946	chr14:40361569-40361570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527830870	chr14:40361570-40361571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567297330	chr14:40361639-40361640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536222588	chr14:40361688-40361689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555920893	chr14:40361712-40361713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116583962	chr14:40361716-40361717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190051836	chr14:40361784-40361785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558339257	chr14:40361805-40361806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541374752	chr14:40361912-40361913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116854287	chr14:40361921-40361922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182164268	chr14:40361923-40361924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35838319	chr14:40361938-40361939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2145702	chr14:40361939-40361940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187649581	chr14:40361968-40361969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574076207	chr14:40362002-40362003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1957194	chr14:40362052-40362053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40355000-40363400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:40363400-40363800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:40363800-40366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:40366800-40367200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:40367200-40371800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:40377200-40390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:40379000-40379800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:40379800-40381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:40381000-40381800	Enhancers	GM12878-XiMat	blood
10	chr14:40381200-40381400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:40381800-40382400	Flanking Active TSS	GM12878-XiMat	blood
12	chr14:40390400-40390600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:40401800-40402200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:40401800-40402200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:40403800-40404400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:40404000-40404400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr14:40408200-40409000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:40408400-40408800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:40408400-40409000	Enhancers	Aorta	Aorta
20	chr14:40415600-40416200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:40415600-40416800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:40416000-40416400	Enhancers	Psoas Muscle	Psoas
23	chr14:40416200-40416400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:40418200-40418400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:40418400-40418800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:40427200-40427600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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