Variant report

Variant	esv3311225
Chromosome Location	chr15:51191283-51191723
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	chr15:51189648..51191735-chr15:51199427..51201147,2	MCF-7	breast:
2	chr15:51191099..51192622-chr15:51197592..51200160,2	K562	blood:
3	chr15:51191078..51193360-chr15:51193790..51196720,2	K562	blood:
4	chr15:51176620..51178151-chr15:51189371..51192335,2	K562	blood:
5	chr15:51176297..51178705-chr15:51190226..51192825,2	MCF-7	breast:
6	chr15:51187671..51190054-chr15:51190212..51192849,2	K562	blood:
7	chr15:50649363..50652046-chr15:51189573..51192655,3	MCF-7	breast:
8	chr15:51190200..51192622-chr15:51197284..51200160,3	K562	blood:
9	chr15:50645317..50647138-chr15:51189907..51192818,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081014	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547580428	chr15:51191362-51191363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548314189	chr15:51191364-51191365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565779566	chr15:51191366-51191367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536036838	chr15:51191410-51191411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141687628	chr15:51191411-51191412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2663542	chr15:51191421-51191422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs537864871	chr15:51191454-51191455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531327423	chr15:51191491-51191492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183626693	chr15:51191540-51191541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147177881	chr15:51191558-51191559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545336016	chr15:51191576-51191577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554435850	chr15:51191649-51191650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572722354	chr15:51191657-51191658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34955287	chr15:51191681-51191682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51177800-51199200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:51177800-51199600	Weak transcription	Ovary	ovary
3	chr15:51179000-51199200	Weak transcription	Brain Angular Gyrus	brain
4	chr15:51183800-51199200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:51185800-51199800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:51187200-51199000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:51187200-51199200	Weak transcription	Placenta	Placenta
8	chr15:51188400-51199200	Weak transcription	Fetal Lung	lung
9	chr15:51189800-51191400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:51190000-51198800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:51191000-51191600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:51191200-51192000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:51191200-51195200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:51191400-51191600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:51191600-51192400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:51191600-51194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:51191600-51199000	Weak transcription	Thymus	Thymus

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