Variant report

Variant	nsv564382
Chromosome Location	chr14:38136019-38137748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000139865	chromatin interactions
ENSG00000129514	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549089068	chr14:38136023-38136024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147372137	chr14:38136029-38136030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562620085	chr14:38136031-38136032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191372505	chr14:38136060-38136061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551321168	chr14:38136134-38136135	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571437228	chr14:38136147-38136148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556814763	chr14:38136172-38136173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533818869	chr14:38136174-38136175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375400664	chr14:38136182-38136183	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547674088	chr14:38136199-38136200	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs566490197	chr14:38136237-38136238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535488178	chr14:38136257-38136258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs77778513	chr14:38136318-38136319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139489610	chr14:38136356-38136357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs538348260	chr14:38136402-38136403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558024198	chr14:38136423-38136424	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs177896	chr14:38136497-38136498	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs578141204	chr14:38136504-38136505	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182821382	chr14:38136523-38136524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560875677	chr14:38136536-38136537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575153159	chr14:38136550-38136551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573658190	chr14:38136608-38136609	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571076253	chr14:38136657-38136658	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542692043	chr14:38136669-38136670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562560850	chr14:38136695-38136696	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs186090514	chr14:38136703-38136704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551458319	chr14:38136739-38136740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372040434	chr14:38136753-38136754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546294975	chr14:38136825-38136826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564305054	chr14:38136833-38136834	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564900462	chr14:38136894-38136895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545415843	chr14:38136900-38136901	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs190652418	chr14:38136986-38136987	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565203313	chr14:38136988-38136989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12100757	chr14:38137033-38137034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569459995	chr14:38137034-38137035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs372033633	chr14:38137036-38137037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143434262	chr14:38137064-38137065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs548927934	chr14:38137065-38137066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568917128	chr14:38137066-38137067	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577129753	chr14:38137112-38137113	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371707558	chr14:38137178-38137179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537926548	chr14:38137196-38137197	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558249408	chr14:38137315-38137316	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571734177	chr14:38137318-38137319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534433700	chr14:38137326-38137327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554502089	chr14:38137338-38137339	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541177612	chr14:38137339-38137340	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs177897	chr14:38137353-38137354	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543351596	chr14:38137365-38137366	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:4 , 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	chr14:38137600-38138000	Enhancers	NH-A	brain
4	chr14:38137600-38138600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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