Variant report

Variant	esv3409359
Chromosome Location	chr10:54593321-54596094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10824813	chr10:54595602-54595603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184836376	chr10:54595650-54595651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571699790	chr10:54595680-54595681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56141225	chr10:54595681-54595682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565140521	chr10:54595693-54595694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555826873	chr10:54595721-54595722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572403013	chr10:54595723-54595724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34990659	chr10:54595789-54595790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551117799	chr10:54595798-54595799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372733946	chr10:54595801-54595802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189147376	chr10:54595809-54595810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541523402	chr10:54595822-54595823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534213549	chr10:54595840-54595841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564288091	chr10:54595852-54595853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533184122	chr10:54595853-54595854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545678497	chr10:54595866-54595867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554205691	chr10:54595890-54595891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562482909	chr10:54595900-54595901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145156541	chr10:54595928-54595929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548035264	chr10:54595960-54595961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567609438	chr10:54595963-54595964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568258510	chr10:54595969-54595970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527364152	chr10:54596001-54596002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369562795	chr10:54596004-54596005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547493600	chr10:54596008-54596009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10824814	chr10:54596025-54596026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs539473203	chr10:54596034-54596035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147580472	chr10:54596052-54596053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556329106	chr10:54596058-54596059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570406442	chr10:54596075-54596076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576120251	chr10:54596081-54596082	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54595600-54596400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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