Variant report

Variant	esv3413974
Chromosome Location	chr15:75480618-75480785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75473895..75476672-chr15:75480654..75483531,2	MCF-7	breast:
2	chr15:75479387..75485839-chr15:75491516..75495608,10	MCF-7	breast:
3	chr15:75480362..75482673-chr15:75494312..75496978,2	K562	blood:
4	chr15:75480252..75483954-chr15:75488836..75493083,4	MCF-7	breast:
5	chr15:75478122..75480662-chr15:75494393..75496768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167173	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376041598	chr15:75480658-75480659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35117543	chr15:75480669-75480670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12904018	chr15:75480677-75480678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
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
Congenital diaphragmatic hernia	21085971	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
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75473000-75487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:75473200-75483200	Weak transcription	Aorta	Aorta
3	chr15:75473200-75483400	Weak transcription	Left Ventricle	heart
4	chr15:75475400-75487800	Weak transcription	Right Atrium	heart
5	chr15:75475600-75481600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:75475600-75487600	Weak transcription	Pancreas	Pancrea
7	chr15:75477200-75492600	Weak transcription	Spleen	Spleen
8	chr15:75478600-75486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:75478800-75480800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:75478800-75483400	Weak transcription	Fetal Heart	heart
11	chr15:75479800-75482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:75480600-75481400	Enhancers	HepG2	liver

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