Variant report

Variant	nsv895432
Chromosome Location	chr10:55922706-55959660
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	10:55527193-55535408..10:55949104-55956834	K562	blood:

Extended variants
information (count: 389 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10509006	chr10:55922706-55922707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574064468	chr10:55922735-55922736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116412441	chr10:55922747-55922748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552949405	chr10:55922803-55922804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572906234	chr10:55922815-55922816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545258707	chr10:55922832-55922833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115357800	chr10:55922854-55922855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376212531	chr10:55922862-55922863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145658820	chr10:55922900-55922901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11004110	chr10:55922940-55922941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10509007	chr10:55922942-55922943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559400769	chr10:55922945-55922946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529786496	chr10:55922992-55922993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534338694	chr10:55926018-55926019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12251774	chr10:55926028-55926029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149657146	chr10:55926040-55926041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74593212	chr10:55926043-55926044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148837553	chr10:55926044-55926045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573790796	chr10:55926078-55926079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142428078	chr10:55926093-55926094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188257723	chr10:55926094-55926095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs118065200	chr10:55926131-55926132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75598143	chr10:55926133-55926134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541418492	chr10:55926161-55926162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572550232	chr10:55926162-55926163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564510031	chr10:55926174-55926175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563383306	chr10:55926182-55926183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369213807	chr10:55926261-55926262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113629778	chr10:55926294-55926295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550449921	chr10:55926310-55926311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570108904	chr10:55926342-55926343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534327899	chr10:55926363-55926364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368299625	chr10:55926391-55926392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372956037	chr10:55926435-55926436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529504309	chr10:55926451-55926452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146843507	chr10:55926466-55926467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140734661	chr10:55926480-55926481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59762003	chr10:55926492-55926493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113525524	chr10:55926524-55926525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60459565	chr10:55926610-55926611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538763216	chr10:55926641-55926642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556855806	chr10:55926642-55926643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140941701	chr10:55926682-55926683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565725545	chr10:55926703-55926704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557239900	chr10:55926714-55926715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7900941	chr10:55926744-55926745	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542825043	chr10:55926746-55926747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553240823	chr10:55926752-55926753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572558793	chr10:55926759-55926760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541581963	chr10:55926760-55926761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Developmental delay	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
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55920200-55923000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:55926000-55926200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr10:55926200-55926800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr10:55926200-55932400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:55926800-55929000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:55929000-55929400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr10:55929000-55930600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:55930600-55932200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr10:55932200-55932600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:55932400-55932600	Enhancers	HUES6 Cell Line	embryonic stem cell

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