Variant report

Variant	nsv1035957
Chromosome Location	chr14:40362391-40433422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1020 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1020 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549725914	chr14:40362428-40362429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569674592	chr14:40362467-40362468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538501651	chr14:40362493-40362494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190373061	chr14:40362560-40362561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572016299	chr14:40362564-40362565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74195268	chr14:40362570-40362571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34005208	chr14:40362579-40362580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554103671	chr14:40362615-40362616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574042133	chr14:40362646-40362647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57214743	chr14:40362668-40362669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556474275	chr14:40362670-40362671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565820922	chr14:40362674-40362675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535974093	chr14:40362680-40362681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146083264	chr14:40362701-40362702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140085587	chr14:40362713-40362714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569329999	chr14:40362714-40362715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115127054	chr14:40362775-40362776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536673286	chr14:40362854-40362855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373367864	chr14:40362868-40362869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572043550	chr14:40362907-40362908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180975897	chr14:40362917-40362918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560950254	chr14:40362928-40362929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529750477	chr14:40362967-40362968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558113450	chr14:40362976-40362977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549622723	chr14:40362978-40362979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185261693	chr14:40363020-40363021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377039744	chr14:40363031-40363032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144072546	chr14:40363033-40363034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72683137	chr14:40363070-40363071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571951268	chr14:40363075-40363076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144087538	chr14:40363125-40363126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572630494	chr14:40363152-40363153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554077419	chr14:40363157-40363158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190313636	chr14:40363160-40363161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567761300	chr14:40363161-40363162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117254925	chr14:40363172-40363173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556228162	chr14:40363177-40363178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148688481	chr14:40363183-40363184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538633667	chr14:40363195-40363196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543159246	chr14:40363199-40363200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558544522	chr14:40363206-40363207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543355210	chr14:40363220-40363221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142239088	chr14:40363275-40363276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181170970	chr14:40363362-40363363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554711831	chr14:40363365-40363366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151137844	chr14:40363369-40363370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186785490	chr14:40363429-40363430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141096518	chr14:40363441-40363442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs377339950	chr14:40363444-40363445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs370497522	chr14:40363464-40363465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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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