Variant report

Variant	nsv818764
Chromosome Location	chr10:56927420-56933921
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	chr10:56930146..56932824-chr10:56934216..56936608,2	K562	blood:
2	chr10:56926801..56928606-chr10:56934525..56937343,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532244334	chr10:56932223-56932224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138211428	chr10:56932231-56932232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75737594	chr10:56932233-56932234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140305668	chr10:56932256-56932257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565460497	chr10:56932282-56932283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150341303	chr10:56932289-56932290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566700618	chr10:56932294-56932295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145116299	chr10:56932322-56932323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149105799	chr10:56932381-56932382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144622700	chr10:56932394-56932395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566670795	chr10:56932429-56932430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372449805	chr10:56932458-56932459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538735333	chr10:56932462-56932463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535279434	chr10:56932492-56932493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117139678	chr10:56932526-56932527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74136379	chr10:56932549-56932550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141689024	chr10:56932566-56932567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536087685	chr10:56932568-56932569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7083935	chr10:56932572-56932573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145348250	chr10:56932594-56932595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147996118	chr10:56932616-56932617	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141529220	chr10:56932627-56932628	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189582390	chr10:56932649-56932650	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182533960	chr10:56932688-56932689	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185300744	chr10:56932705-56932706	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7095862	chr10:56932715-56932716	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190067352	chr10:56932768-56932769	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573697803	chr10:56932796-56932797	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561581631	chr10:56932842-56932843	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11812684	chr10:56932852-56932853	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555073662	chr10:56932864-56932865	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543150786	chr10:56932898-56932899	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546627370	chr10:56932903-56932904	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566511188	chr10:56932947-56932948	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61445758	chr10:56933099-56933100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201572783	chr10:56933101-56933102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57067916	chr10:56933102-56933103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7084357	chr10:56933107-56933108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552610587	chr10:56933120-56933121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369147293	chr10:56933125-56933126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371490699	chr10:56933140-56933141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529065466	chr10:56933153-56933154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72801679	chr10:56933173-56933174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568407429	chr10:56933177-56933178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534065332	chr10:56933186-56933187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565611125	chr10:56933197-56933198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553832028	chr10:56933249-56933250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372128400	chr10:56933262-56933263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12572873	chr10:56933271-56933272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183625551	chr10:56933319-56933320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56932200-56932600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:56932200-56932800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr10:56932200-56933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr10:56932200-56933200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:56932600-56933000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr10:56932600-56933000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:56932800-56933000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr10:56932800-56934000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr10:56933000-56934000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:56933000-56934000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:56933000-56934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:56933000-56934400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr10:56933200-56933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:56933600-56934400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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