Variant report

Variant	esv3409112
Chromosome Location	chr15:73301065-73301613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559939417	chr15:73301067-73301068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370505033	chr15:73301144-73301145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543118583	chr15:73301154-73301155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200808111	chr15:73301166-73301167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531697930	chr15:73301168-73301169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60520163	chr15:73301182-73301183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370485051	chr15:73301206-73301207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561120178	chr15:73301220-73301221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531777926	chr15:73301228-73301229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550185954	chr15:73301260-73301261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8042368	chr15:73301276-73301277	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28546255	chr15:73301277-73301278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs8041358	chr15:73301315-73301316	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs8041362	chr15:73301331-73301332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575922852	chr15:73301418-73301419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192523864	chr15:73301421-73301422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567144714	chr15:73301465-73301466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537874213	chr15:73301499-73301500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74542313	chr15:73301512-73301513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577490000	chr15:73301605-73301606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184909145	chr15:73301606-73301607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73292800-73301400	Weak transcription	Fetal Stomach	stomach
2	chr15:73298400-73303200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:73299800-73302400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:73301000-73301200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:73301200-73303200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:73301400-73301800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:73301400-73302200	Enhancers	Fetal Lung	lung
8	chr15:73301400-73303200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:73301400-73303400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:73301400-73303600	Enhancers	Fetal Stomach	stomach
11	chr15:73301400-73303600	Enhancers	HMEC	breast
12	chr15:73301600-73301800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:73301600-73301800	Enhancers	NHEK	skin
14	chr15:73301600-73302200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:73301600-73302200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:73301600-73303200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:73301600-73303200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:73301600-73303400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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