Variant report

Variant	esv3395235
Chromosome Location	chr5:14927249-14927696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14664017..14666090-chr5:14925708..14927348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261360	chromatin interactions
ENSG00000154124	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202056428	chr5:14927260-14927261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113160303	chr5:14927261-14927262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367787728	chr5:14927262-14927263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146457028	chr5:14927263-14927264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576848575	chr5:14927265-14927266	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544332354	chr5:14927296-14927297	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76054475	chr5:14927321-14927322	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs78589841	chr5:14927346-14927347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs77542729	chr5:14927373-14927374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184285813	chr5:14927382-14927383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72537722	chr5:14927407-14927408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367988666	chr5:14927408-14927409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75497850	chr5:14927409-14927410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560039889	chr5:14927476-14927477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187605746	chr5:14927480-14927481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs728844	chr5:14927488-14927489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs75937673	chr5:14927508-14927509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554275421	chr5:14927514-14927515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540842312	chr5:14927568-14927569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192857727	chr5:14927569-14927570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551099034	chr5:14927591-14927592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184835539	chr5:14927594-14927595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536661968	chr5:14927618-14927619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190176115	chr5:14927639-14927640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14916600-14929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:14924000-14929400	Weak transcription	Fetal Heart	heart
3	chr5:14924800-14927400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:14924800-14927400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:14925200-14927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:14925400-14927400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:14925400-14927400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:14925400-14927400	Enhancers	NHDF-Ad	bronchial
9	chr5:14925400-14931000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:14925600-14927400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr5:14926000-14927400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:14926400-14929200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:14926600-14927400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:14926600-14927400	Enhancers	Dnd41	blood
15	chr5:14926600-14927400	Enhancers	Osteobl	bone
16	chr5:14926600-14927600	Weak transcription	Lung	lung
17	chr5:14926600-14927600	Enhancers	NH-A	brain
18	chr5:14926600-14929200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:14926600-14929400	Weak transcription	Left Ventricle	heart
20	chr5:14926800-14928400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:14926800-14929200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:14927000-14929200	Weak transcription	NHLF	lung
23	chr5:14927200-14928600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:14927200-14928800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:14927200-14929400	Weak transcription	Placenta	Placenta
26	chr5:14927200-14934400	Weak transcription	HMEC	breast
27	chr5:14927200-14934600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:14927400-14928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:14927400-14928600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:14927400-14928600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:14927400-14928600	Weak transcription	Osteobl	bone
32	chr5:14927400-14929000	Weak transcription	NHDF-Ad	bronchial
33	chr5:14927400-14929200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:14927600-14937400	Weak transcription	NH-A	brain

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