Variant report

Variant	esv1001796
Chromosome Location	chr14:38134679-38137605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535620501	chr14:38134720-38134721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140633386	chr14:38134745-38134746	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569092697	chr14:38134753-38134754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs111693675	chr14:38134771-38134772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558092734	chr14:38134797-38134798	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577160443	chr14:38134803-38134804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs545925105	chr14:38134822-38134823	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372917858	chr14:38134833-38134834	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553410826	chr14:38134836-38134837	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573292276	chr14:38134846-38134847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs72674268	chr14:38134877-38134878	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570777759	chr14:38134896-38134897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192760482	chr14:38134906-38134907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145690628	chr14:38134928-38134929	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531014804	chr14:38135045-38135046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs177893	chr14:38135050-38135051	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141202746	chr14:38135102-38135103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534771784	chr14:38135141-38135142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144955774	chr14:38135172-38135173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184276448	chr14:38135183-38135184	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566477060	chr14:38135198-38135199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138957031	chr14:38135270-38135271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189091731	chr14:38135271-38135272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553135179	chr14:38135278-38135279	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs177894	chr14:38135284-38135285	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs56272111	chr14:38135306-38135307	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs538078006	chr14:38135466-38135467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181857841	chr14:38135497-38135498	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs177895	chr14:38135498-38135499	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539805724	chr14:38135545-38135546	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553060127	chr14:38135588-38135589	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186260827	chr14:38135599-38135600	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375894817	chr14:38135642-38135643	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs78710429	chr14:38135651-38135652	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs75034746	chr14:38135652-38135653	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs397738502	chr14:38135667-38135668	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs372805830	chr14:38135739-38135740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148137190	chr14:38135753-38135754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188999519	chr14:38135769-38135770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555452431	chr14:38135776-38135777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs374249834	chr14:38135782-38135783	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368779821	chr14:38135866-38135867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575426799	chr14:38135872-38135873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs180957561	chr14:38135902-38135903	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs564783672	chr14:38135920-38135921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186075610	chr14:38135945-38135946	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs142776106	chr14:38135973-38135974	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs67770262	chr14:38135985-38135986	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528904534	chr14:38135998-38135999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549089068	chr14:38136023-38136024	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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