Variant report

Variant	esv2050055
Chromosome Location	chr15:78425451-78425452
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78425346..78429501-chr15:78464309..78466788,4	MCF-7	breast:
2	chr15:78423938..78425787-chr15:78425913..78427617,2	K562	blood:
3	chr15:78424791..78431116-chr15:78431151..78434947,7	MCF-7	breast:
4	chr15:78423050..78427605-chr15:78432495..78437286,5	K562	blood:
5	chr15:78425017..78427929-chr15:78494303..78496254,2	K562	blood:
6	chr15:78424185..78426461-chr15:78430186..78431822,2	K562	blood:
7	chr15:78424822..78426372-chr15:78589909..78592565,2	MCF-7	breast:
8	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
9	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
10	chr15:78424205..78426450-chr15:78728498..78730195,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140395	chromatin interactions
ENSG00000260988	chromatin interactions
ENSG00000136381	chromatin interactions
ENSG00000166411	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 57 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8040421	chr15:78425451-78425452	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78424400-78426000	Weak transcription	Esophagus	oesophagus
2	chr15:78424400-78426400	Enhancers	Small Intestine	intestine
3	chr15:78424400-78427000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr15:78424400-78427200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:78424400-78433400	Weak transcription	Ovary	ovary
6	chr15:78424600-78425600	Enhancers	NHEK	skin
7	chr15:78424600-78425800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:78424600-78425800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:78424600-78426000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:78424600-78426000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr15:78424600-78426000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:78424600-78426000	Weak transcription	Stomach Mucosa	stomach
13	chr15:78424600-78426200	Enhancers	GM12878-XiMat	blood
14	chr15:78424600-78426400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr15:78424600-78426400	Enhancers	HMEC	breast
16	chr15:78424600-78426600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:78424600-78426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:78424600-78427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:78424600-78427200	Enhancers	Placenta	Placenta
20	chr15:78424600-78427400	Enhancers	Fetal Intestine Small	intestine
21	chr15:78424600-78440800	Weak transcription	HSMMtube	muscle
22	chr15:78424800-78426000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr15:78424800-78426000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:78424800-78426000	Enhancers	Thymus	Thymus
25	chr15:78424800-78426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:78424800-78426800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:78424800-78427200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:78424800-78427200	Enhancers	Fetal Intestine Large	intestine
29	chr15:78424800-78431600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr15:78424800-78431800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:78425000-78426200	Enhancers	Primary T cells from cord blood	blood
32	chr15:78425000-78426200	Enhancers	Fetal Thymus	thymus
33	chr15:78425000-78428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:78425000-78440600	Weak transcription	Fetal Stomach	stomach
35	chr15:78425200-78425600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr15:78425200-78427800	Weak transcription	A549	lung
37	chr15:78425200-78431600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:78425400-78425800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:78425400-78432000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:78425400-78432600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr15:78425400-78436800	Weak transcription	Adipose Nuclei	Adipose

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