Variant report

Variant	esv3530578
Chromosome Location	chr14:38132983-38137883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573128037	chr14:38133054-38133055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543693471	chr14:38133057-38133058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541776915	chr14:38133114-38133115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12889859	chr14:38133117-38133118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530124472	chr14:38133137-38133138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373202295	chr14:38133145-38133146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368174457	chr14:38133149-38133150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371989649	chr14:38133150-38133151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377119545	chr14:38133152-38133153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200013038	chr14:38133153-38133154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112000793	chr14:38133233-38133234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532729227	chr14:38133262-38133263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143110329	chr14:38133275-38133276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145150865	chr14:38133278-38133279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535296606	chr14:38133284-38133285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548603931	chr14:38133293-38133294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567678433	chr14:38133295-38133296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536689925	chr14:38133325-38133326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559548361	chr14:38133326-38133327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556635470	chr14:38133332-38133333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183566248	chr14:38133337-38133338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539243364	chr14:38133367-38133368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150871056	chr14:38133462-38133463	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572977212	chr14:38133471-38133472	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs542064055	chr14:38133476-38133477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562000769	chr14:38133534-38133535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574881351	chr14:38133550-38133551	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139518189	chr14:38133551-38133552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563754282	chr14:38133554-38133555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376187614	chr14:38133557-38133558	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs58982783	chr14:38133590-38133591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186620839	chr14:38133636-38133637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559850924	chr14:38133641-38133642	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528688130	chr14:38133656-38133657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs548463910	chr14:38133736-38133737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568573981	chr14:38133737-38133738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs568462747	chr14:38133743-38133744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs115750464	chr14:38133747-38133748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550196763	chr14:38133793-38133794	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570129973	chr14:38133798-38133799	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530211564	chr14:38133843-38133844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142729084	chr14:38133846-38133847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs551482063	chr14:38133885-38133886	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548439145	chr14:38133916-38133917	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147362440	chr14:38133917-38133918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs56853647	chr14:38133989-38133990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs139448144	chr14:38134013-38134014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs145310266	chr14:38134048-38134049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs75921135	chr14:38134098-38134099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192735417	chr14:38134110-38134111	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:6 , 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

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