Variant report

Variant	esv3415292
Chromosome Location	chr15:50683072-50683261
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	chr15:50646276..50650534-chr15:50680183..50686065,7	MCF-7	breast:
2	chr15:50643783..50647096-chr15:50681349..50683673,3	K562	blood:
3	chr15:50677655..50679701-chr15:50681289..50683239,2	MCF-7	breast:
4	chr15:50682997..50684534-chr15:50714644..50717235,2	K562	blood:
5	chr15:50653724..50655315-chr15:50681569..50683481,2	K562	blood:
6	chr15:50646317..50649319-chr15:50681822..50686701,6	MCF-7	breast:
7	chr15:50652761..50655517-chr15:50682002..50683698,2	MCF-7	breast:
8	chr15:50647718..50649902-chr15:50680619..50683517,3	K562	blood:
9	chr15:50655847..50659285-chr15:50680641..50684000,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104064	chromatin interactions
ENSG00000138592	chromatin interactions
ENSG00000244879	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140721470	chr15:50683074-50683075	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs144469130	chr15:50683162-50683163	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529049522	chr15:50683196-50683197	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs146553135	chr15:50683199-50683200	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs149132486	chr15:50683204-50683205	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs11639115	chr15:50683211-50683212	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570466170	chr15:50683226-50683227	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs536628267	chr15:50683227-50683228	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs534804224	chr15:50683240-50683241	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50677000-50690400	Weak transcription	Right Atrium	heart
2	chr15:50681400-50685600	Enhancers	Placenta	Placenta
3	chr15:50681800-50684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:50682200-50684400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:50682600-50683400	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:50682600-50683800	Enhancers	K562	blood
7	chr15:50682800-50683200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:50682800-50683400	Enhancers	Primary B cells from peripheral blood	blood
9	chr15:50682800-50683400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:50682800-50683400	Enhancers	A549	lung
11	chr15:50682800-50683600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:50682800-50683600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:50682800-50685400	Enhancers	Hela-S3	cervix
14	chr15:50682800-50685600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:50683000-50683400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr15:50683000-50683400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:50683000-50683400	Flanking Active TSS	GM12878-XiMat	blood
18	chr15:50683000-50683400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr15:50683000-50684000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:50683000-50684000	Enhancers	Fetal Intestine Small	intestine
21	chr15:50683000-50684000	Enhancers	NHEK	skin
22	chr15:50683000-50684200	Enhancers	Esophagus	oesophagus
23	chr15:50683000-50685200	Enhancers	Fetal Muscle Leg	muscle
24	chr15:50683200-50684000	Enhancers	Primary neutrophils fromperipheralblood	blood

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