Variant report

Variant	nsv512356
Chromosome Location	chr14:39002022-39005201
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	chr14:38987319..38989773-chr14:39001205..39003532,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534835477	chr14:39002027-39002028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138899803	chr14:39002049-39002050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552753842	chr14:39002077-39002078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs180814520	chr14:39002083-39002084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568650847	chr14:39002091-39002092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531187928	chr14:39002142-39002143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572381116	chr14:39002195-39002196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376392108	chr14:39002204-39002205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369674857	chr14:39002256-39002257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186098258	chr14:39002336-39002337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191101306	chr14:39002403-39002404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554037440	chr14:39002427-39002428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372716727	chr14:39002454-39002455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2899876	chr14:39002473-39002474	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111741782	chr14:39002480-39002481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs575834224	chr14:39002484-39002485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377589802	chr14:39002512-39002513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2415483	chr14:39002530-39002531	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182870276	chr14:39002538-39002539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577975204	chr14:39002637-39002638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs540545424	chr14:39002641-39002642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560857453	chr14:39002644-39002645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs149396821	chr14:39002688-39002689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529451324	chr14:39002726-39002727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs4351955	chr14:39002736-39002737	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143095321	chr14:39002762-39002763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77545590	chr14:39002843-39002844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565251832	chr14:39002865-39002866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531346360	chr14:39002922-39002923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs372007712	chr14:39002925-39002926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74534455	chr14:39002945-39002946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs564679934	chr14:39002956-39002957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148216712	chr14:39002965-39002966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs371444084	chr14:39002967-39002968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547338914	chr14:39003018-39003019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567584825	chr14:39003036-39003037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536428714	chr14:39003049-39003050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141577106	chr14:39003109-39003110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541613590	chr14:39003119-39003120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559587466	chr14:39003128-39003129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569362582	chr14:39003134-39003135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538299411	chr14:39003169-39003170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558255830	chr14:39003179-39003180	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565170094	chr14:39003181-39003182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368520882	chr14:39003194-39003195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554149025	chr14:39003304-39003305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574043043	chr14:39003305-39003306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532052670	chr14:39003306-39003307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542804931	chr14:39003337-39003338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530251405	chr14:39003386-39003387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38996600-39003400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:38998000-39003000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:39002800-39005600	Weak transcription	Fetal Brain Male	brain
4	chr14:39003000-39003400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:39003400-39004200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:39003400-39004400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:39004200-39004600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:39004400-39006000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:39004600-39004800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:39004800-39005000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:39005000-39006800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:39005000-39009000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:39005200-39006000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:39005200-39006400	Enhancers	HUES64 Cell Line	embryonic stem cell

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