Variant report

Variant	nsv564359
Chromosome Location	chr14:38132515-38139214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38139116..38141185-chr14:38142374..38143930,2	MCF-7	breast:
2	chr14:38060438..38062133-chr14:38130712..38132708,2	MCF-7	breast:
3	chr14:38060951..38065801-chr14:38133423..38140633,9	MCF-7	breast:
4	chr14:38056260..38058013-chr14:38136356..38140465,3	MCF-7	breast:
5	chr14:38137638..38140285-chr14:38157919..38160073,2	MCF-7	breast:
6	chr14:38137632..38140312-chr14:38141019..38143766,2	MCF-7	breast:
7	chr14:38050621..38053581-chr14:38135495..38137848,2	MCF-7	breast:
8	chr14:38135828..38138506-chr14:38180627..38182501,2	MCF-7	breast:
9	chr14:38060301..38063769-chr14:38137094..38139893,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs177892	chr14:38132515-38132516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187638673	chr14:38132528-38132529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550322078	chr14:38132578-38132579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79189696	chr14:38132587-38132588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35269176	chr14:38132590-38132591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145769105	chr14:38132602-38132603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148947421	chr14:38132616-38132617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145643943	chr14:38132664-38132665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs66467178	chr14:38132665-38132666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192497548	chr14:38132699-38132700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574116685	chr14:38132752-38132753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528539217	chr14:38132757-38132758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536700378	chr14:38132770-38132771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556647671	chr14:38132793-38132794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576618642	chr14:38132802-38132803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113903319	chr14:38132906-38132907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567981916	chr14:38132922-38132923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559366392	chr14:38132962-38132963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573128037	chr14:38133054-38133055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543693471	chr14:38133057-38133058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541776915	chr14:38133114-38133115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12889859	chr14:38133117-38133118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530124472	chr14:38133137-38133138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373202295	chr14:38133145-38133146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368174457	chr14:38133149-38133150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371989649	chr14:38133150-38133151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377119545	chr14:38133152-38133153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200013038	chr14:38133153-38133154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112000793	chr14:38133233-38133234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532729227	chr14:38133262-38133263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143110329	chr14:38133275-38133276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145150865	chr14:38133278-38133279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535296606	chr14:38133284-38133285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548603931	chr14:38133293-38133294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567678433	chr14:38133295-38133296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536689925	chr14:38133325-38133326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559548361	chr14:38133326-38133327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556635470	chr14:38133332-38133333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183566248	chr14:38133337-38133338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539243364	chr14:38133367-38133368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150871056	chr14:38133462-38133463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572977212	chr14:38133471-38133472	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542064055	chr14:38133476-38133477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562000769	chr14:38133534-38133535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574881351	chr14:38133550-38133551	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139518189	chr14:38133551-38133552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs563754282	chr14:38133554-38133555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376187614	chr14:38133557-38133558	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs58982783	chr14:38133590-38133591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186620839	chr14:38133636-38133637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38124800-38138200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:38125000-38137600	Weak transcription	NH-A	brain
3	chr14:38132400-38133600	Enhancers	Liver	Liver
4	chr14:38137600-38138000	Enhancers	NH-A	brain
5	chr14:38137600-38138600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:38137800-38138400	Enhancers	A549	lung
7	chr14:38138000-38138400	Enhancers	Hela-S3	cervix
8	chr14:38138200-38138400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:38138600-38148200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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