Variant report

Variant	esv3315052
Chromosome Location	chr10:53699381-53707128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146163630	chr10:53706008-53706009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148801844	chr10:53706012-53706013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142259313	chr10:53706013-53706014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563693055	chr10:53706034-53706035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192690791	chr10:53706038-53706039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532829658	chr10:53706051-53706052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543501866	chr10:53706100-53706101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556216643	chr10:53706118-53706119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151249498	chr10:53706119-53706120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140478621	chr10:53706140-53706141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544922186	chr10:53706178-53706179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182127496	chr10:53706181-53706182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187912075	chr10:53706182-53706183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571609437	chr10:53706196-53706197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7923011	chr10:53706205-53706206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192434183	chr10:53706214-53706215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184589765	chr10:53706217-53706218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536364756	chr10:53706229-53706230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555114781	chr10:53706236-53706237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571912914	chr10:53706237-53706238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540917783	chr10:53706239-53706240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557813783	chr10:53706243-53706244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190176024	chr10:53706247-53706248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192759874	chr10:53706252-53706253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6480606	chr10:53706267-53706268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573624663	chr10:53706292-53706293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7923167	chr10:53706338-53706339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184871994	chr10:53706351-53706352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189324763	chr10:53706387-53706388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6480607	chr10:53706388-53706389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549604560	chr10:53706395-53706396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552103203	chr10:53706415-53706416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180866913	chr10:53706429-53706430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56154780	chr10:53706495-53706496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550667670	chr10:53706521-53706522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183458050	chr10:53706534-53706535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148908354	chr10:53706542-53706543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546699036	chr10:53706549-53706550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189392347	chr10:53706550-53706551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534536227	chr10:53706561-53706562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181831990	chr10:53706578-53706579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185977822	chr10:53706606-53706607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11000242	chr10:53706607-53706608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556635033	chr10:53706625-53706626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573685074	chr10:53706631-53706632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11000243	chr10:53706644-53706645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376042278	chr10:53706653-53706654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191829973	chr10:53706660-53706661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11817868	chr10:53706668-53706669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375648646	chr10:53706684-53706685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Cancer	20164920	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53706000-53710200	Weak transcription	Right Atrium	heart

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