Variant report

Variant	esv13878
Chromosome Location	chr10:57558835-57561573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375612553	chr10:57559400-57559401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191195495	chr10:57559417-57559418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139504786	chr10:57559429-57559430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569907282	chr10:57559446-57559447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184112627	chr10:57559450-57559451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564211083	chr10:57559452-57559453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564313179	chr10:57559454-57559455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34057914	chr10:57559459-57559460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149702180	chr10:57559465-57559466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374362245	chr10:57559477-57559478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188519016	chr10:57559518-57559519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563412691	chr10:57559547-57559548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528843717	chr10:57559560-57559561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532753513	chr10:57559570-57559571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6481182	chr10:57559572-57559573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562243847	chr10:57559587-57559588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181716089	chr10:57559591-57559592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547571870	chr10:57559603-57559604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184185800	chr10:57559616-57559617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367763213	chr10:57559657-57559658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535034717	chr10:57559669-57559670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539664854	chr10:57559672-57559673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549970657	chr10:57559733-57559734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190431913	chr10:57559769-57559770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571596201	chr10:57559826-57559827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114363159	chr10:57559837-57559838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555777857	chr10:57559842-57559843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182268215	chr10:57559882-57559883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534950608	chr10:57559894-57559895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187099996	chr10:57559897-57559898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557961470	chr10:57559908-57559909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563407424	chr10:57559943-57559944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577878259	chr10:57560068-57560069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191153757	chr10:57560109-57560110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563190646	chr10:57560119-57560120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529204110	chr10:57560120-57560121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573727463	chr10:57560127-57560128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113226018	chr10:57560129-57560130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558960836	chr10:57560132-57560133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7898484	chr10:57560172-57560173	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs547653728	chr10:57560193-57560194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180834460	chr10:57560200-57560201	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533322404	chr10:57560211-57560212	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185881614	chr10:57560230-57560231	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7476808	chr10:57560316-57560317	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536403345	chr10:57560323-57560324	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570048446	chr10:57560344-57560345	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368041136	chr10:57560354-57560355	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535983733	chr10:57560367-57560368	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190058878	chr10:57560375-57560376	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Obesity	21956041	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
Autism	20858243	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57559400-57559600	Enhancers	Fetal Brain Male	brain
2	chr10:57559600-57560400	Weak transcription	Fetal Brain Male	brain
3	chr10:57559800-57560200	Enhancers	Liver	Liver
4	chr10:57560200-57560600	Flanking Active TSS	Liver	Liver
5	chr10:57560200-57560800	Enhancers	Fetal Brain Female	brain
6	chr10:57560400-57561200	Enhancers	Fetal Brain Male	brain
7	chr10:57560600-57561200	Active TSS	Liver	Liver
8	chr10:57561200-57562000	Enhancers	Liver	Liver
9	chr10:57561200-57570200	Weak transcription	Fetal Brain Male	brain

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