Variant report

Variant	nsv977418
Chromosome Location	chr14:72711411-72714736
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	chr14:72711994..72714695-chr14:72721324..72722948,2	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538316452	chr14:72711440-72711441	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556639186	chr14:72711441-72711442	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576184886	chr14:72711487-72711488	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75364190	chr14:72711535-72711536	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60517633	chr14:72711536-72711537	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs67147766	chr14:72711537-72711538	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375002976	chr14:72711548-72711549	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397952055	chr14:72711549-72711550	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544035396	chr14:72711554-72711555	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111452095	chr14:72711571-72711572	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562240123	chr14:72711593-72711594	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574302644	chr14:72711596-72711597	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572580403	chr14:72711615-72711616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545662344	chr14:72711637-72711638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184357999	chr14:72711639-72711640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs559750465	chr14:72711641-72711642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533387363	chr14:72711659-72711660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545472469	chr14:72711722-72711723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs563782944	chr14:72711739-72711740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs575588933	chr14:72711752-72711753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73301189	chr14:72711787-72711788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs561310981	chr14:72711796-72711797	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528351587	chr14:72711805-72711806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546509083	chr14:72711809-72711810	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570861415	chr14:72711828-72711829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538253318	chr14:72711830-72711831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112173658	chr14:72711851-72711852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568657258	chr14:72711858-72711859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529015265	chr14:72711898-72711899	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147170515	chr14:72711916-72711917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559663948	chr14:72711925-72711926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs61997487	chr14:72711967-72711968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555960249	chr14:72711986-72711987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574169218	chr14:72711989-72711990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs189440124	chr14:72712004-72712005	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs199552314	chr14:72712015-72712016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200700846	chr14:72712036-72712037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs553707146	chr14:72712076-72712077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs6574056	chr14:72712084-72712085	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79515060	chr14:72712092-72712093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545462291	chr14:72712134-72712135	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs550625144	chr14:72712137-72712138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563770644	chr14:72712209-72712210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531064374	chr14:72712264-72712265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs7155820	chr14:72712283-72712284	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528274956	chr14:72712322-72712323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546447278	chr14:72712323-72712324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571244978	chr14:72712371-72712372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531977641	chr14:72712441-72712442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181323675	chr14:72712462-72712463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Alzheimer''s disease	22166940	CNVD
Cancer	20164919	CNVD
head and neck squamous cell carcinoma	24351288	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72699800-72719600	Weak transcription	Right Ventricle	heart
2	chr14:72706600-72721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:72706800-72712600	Weak transcription	Fetal Kidney	kidney
4	chr14:72710400-72712800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:72711000-72711600	Enhancers	Left Ventricle	heart
6	chr14:72711000-72712200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:72711000-72712800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr14:72711200-72711600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr14:72711400-72711600	Enhancers	Stomach Smooth Muscle	stomach
10	chr14:72711400-72712000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:72711400-72713800	Weak transcription	Fetal Heart	heart
12	chr14:72711400-72714600	Weak transcription	Fetal Stomach	stomach
13	chr14:72711600-72719600	Weak transcription	Left Ventricle	heart
14	chr14:72712000-72722200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:72712200-72713200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr14:72712600-72712800	Enhancers	Fetal Kidney	kidney
17	chr14:72712800-72722600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:72713200-72715400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:72713800-72714200	Enhancers	Fetal Heart	heart
20	chr14:72714200-72715000	Flanking Active TSS	Fetal Heart	heart
21	chr14:72714600-72715000	Enhancers	Fetal Stomach	stomach

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