Variant report

Variant	nsv564468
Chromosome Location	chr14:41279247-41318106
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	chr14:41285689..41286269-chr14:41888680..41889346,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 63 )

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	rs1177855	chr14:41297206-41297207	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542581133	chr14:41297258-41297259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183551846	chr14:41297273-41297274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs528147042	chr14:41297286-41297287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs188842225	chr14:41297289-41297290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546291921	chr14:41297325-41297326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571105288	chr14:41297326-41297327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs58542454	chr14:41297327-41297328	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550442188	chr14:41297337-41297338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574579463	chr14:41297354-41297355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201933915	chr14:41311454-41311455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144557007	chr14:41311491-41311492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191201030	chr14:41311538-41311539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs66688641	chr14:41311542-41311543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542205560	chr14:41311585-41311586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77490797	chr14:41311610-41311611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569936816	chr14:41311613-41311614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527782966	chr14:41311668-41311669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552683043	chr14:41311693-41311694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148474660	chr14:41311713-41311714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79334471	chr14:41311737-41311738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531959935	chr14:41311932-41311933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549980758	chr14:41312000-41312001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147136133	chr14:41312017-41312018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184000040	chr14:41312055-41312056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547736422	chr14:41312060-41312061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140344850	chr14:41312083-41312084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375050402	chr14:41312095-41312096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533640757	chr14:41312140-41312141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558647801	chr14:41312176-41312177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576887915	chr14:41312192-41312193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538004381	chr14:41312218-41312219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116223952	chr14:41312267-41312268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111684987	chr14:41312303-41312304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187699218	chr14:41312305-41312306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10132335	chr14:41312412-41312413	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192763127	chr14:41312430-41312431	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs560278763	chr14:41312434-41312435	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs10132420	chr14:41312476-41312477	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545957802	chr14:41312492-41312493	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564574672	chr14:41312517-41312518	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs531724239	chr14:41312539-41312540	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549919176	chr14:41312580-41312581	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561947691	chr14:41312587-41312588	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529540876	chr14:41312596-41312597	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs202162244	chr14:41312599-41312600	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs573745675	chr14:41312608-41312609	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368417886	chr14:41312634-41312635	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184178237	chr14:41312680-41312681	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs533754415	chr14:41312707-41312708	Enhancers Flanking Active TSS	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41297200-41297400	ZNF genes & repeats	Psoas Muscle	Psoas
2	chr14:41311400-41312400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:41312000-41313000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:41312400-41312800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:41312400-41312800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:41312400-41312800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:41312400-41313000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:41316400-41317200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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