Variant report

Variant	esv994915
Chromosome Location	chr14:38129915-38137842
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	chr14:38060301..38063769-chr14:38137094..38139893,4	MCF-7	breast:
2	chr14:38060700..38073158-chr14:38106984..38130497,55	MCF-7	breast:
3	chr14:38137632..38140312-chr14:38141019..38143766,2	MCF-7	breast:
4	chr14:38060951..38065801-chr14:38133423..38140633,9	MCF-7	breast:
5	chr14:38050621..38053581-chr14:38135495..38137848,2	MCF-7	breast:
6	chr14:38135828..38138506-chr14:38180627..38182501,2	MCF-7	breast:
7	chr14:38060438..38062133-chr14:38130712..38132708,2	MCF-7	breast:
8	chr14:38056260..38058013-chr14:38136356..38140465,3	MCF-7	breast:
9	chr14:38137638..38140285-chr14:38157919..38160073,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions

Extended variants
information (count: 294 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:294 , 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	rs531337263	chr14:38129929-38129930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143287813	chr14:38129932-38129933	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565016513	chr14:38129950-38129951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527480527	chr14:38129984-38129985	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs118061734	chr14:38130013-38130014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567538574	chr14:38130019-38130020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189234846	chr14:38130020-38130021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549665170	chr14:38130062-38130063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568870463	chr14:38130079-38130080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537887259	chr14:38130100-38130101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111679092	chr14:38130131-38130132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs117778849	chr14:38130177-38130178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577155295	chr14:38130180-38130181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181988217	chr14:38130207-38130208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570716439	chr14:38130217-38130218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34168323	chr14:38130238-38130239	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554037958	chr14:38130270-38130271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574198621	chr14:38130287-38130288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113914488	chr14:38130303-38130304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34181100	chr14:38130310-38130311	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs146291654	chr14:38130348-38130349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35374466	chr14:38130420-38130421	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375834409	chr14:38130430-38130431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371428695	chr14:38130431-38130432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12587981	chr14:38130450-38130451	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374914024	chr14:38130514-38130515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143021191	chr14:38130653-38130654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527432512	chr14:38130669-38130670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372281518	chr14:38130692-38130693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150838119	chr14:38130725-38130726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560870327	chr14:38130768-38130769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369609242	chr14:38130786-38130787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115087069	chr14:38130817-38130818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189892019	chr14:38130824-38130825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569660803	chr14:38130852-38130853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs177887	chr14:38130858-38130859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182773587	chr14:38130949-38130950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186583023	chr14:38131033-38131034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149912257	chr14:38131064-38131065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554243800	chr14:38131096-38131097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61531864	chr14:38131134-38131135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567628446	chr14:38131148-38131149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12878124	chr14:38131195-38131196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117706538	chr14:38131239-38131240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556985825	chr14:38131264-38131265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12878710	chr14:38131265-38131266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537204408	chr14:38131279-38131280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571500183	chr14:38131403-38131404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201083557	chr14:38131411-38131412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576838590	chr14:38131415-38131416	Weak transcription	n/a	n/a	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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