Variant report

Variant	esv3388323
Chromosome Location	chr10:45522846-45526444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45496607..45498157-chr10:45521070..45522987,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149969841	chr10:45523024-45523025	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191599417	chr10:45523054-45523055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556288396	chr10:45523181-45523182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373192405	chr10:45523188-45523189	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146472832	chr10:45523213-45523214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34978281	chr10:45523256-45523257	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139926661	chr10:45523277-45523278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7915377	chr10:45523336-45523337	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75829177	chr10:45523344-45523345	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs533391084	chr10:45523360-45523361	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529312315	chr10:45523365-45523366	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182937594	chr10:45523382-45523383	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144262107	chr10:45523386-45523387	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45523000-45523400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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