Variant report

Variant	nsv975774
Chromosome Location	chr10:57694121-57702877
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	chr10:57689140..57691906-chr10:57693909..57695941,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530923499	chr10:57699455-57699456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373854813	chr10:57699484-57699485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566232625	chr10:57699505-57699506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79754599	chr10:57699525-57699526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560970195	chr10:57699559-57699560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564522588	chr10:57699613-57699614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201109567	chr10:57699614-57699615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372188569	chr10:57699615-57699616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397721243	chr10:57699618-57699619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529917761	chr10:57699646-57699647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546613965	chr10:57699699-57699700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566650137	chr10:57699701-57699702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71719367	chr10:57699720-57699721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201119526	chr10:57699725-57699726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7090507	chr10:57699793-57699794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184322376	chr10:57699805-57699806	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568931972	chr10:57699840-57699841	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537953797	chr10:57699846-57699847	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188606913	chr10:57699849-57699850	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145568717	chr10:57699862-57699863	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568088971	chr10:57699879-57699880	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569183367	chr10:57699899-57699900	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536669450	chr10:57699900-57699901	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536933675	chr10:57699909-57699910	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553426950	chr10:57699959-57699960	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs61852025	chr10:57699986-57699987	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566978354	chr10:57700031-57700032	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538818001	chr10:57700082-57700083	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181682376	chr10:57700083-57700084	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74136740	chr10:57700114-57700115	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs544329736	chr10:57700149-57700150	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560931554	chr10:57700150-57700151	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574781389	chr10:57700159-57700160	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540518347	chr10:57700175-57700176	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs186169820	chr10:57700216-57700217	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11005118	chr10:57700217-57700218	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536576799	chr10:57700314-57700315	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562693583	chr10:57700328-57700329	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138161012	chr10:57700363-57700364	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374227299	chr10:57700400-57700401	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75654933	chr10:57700426-57700427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61852026	chr10:57700434-57700435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61852027	chr10:57700436-57700437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7094684	chr10:57700438-57700439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4991651	chr10:57700440-57700441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548337966	chr10:57700564-57700565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142556788	chr10:57700571-57700572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533596670	chr10:57700656-57700657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547381701	chr10:57700668-57700669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116169898	chr10:57700669-57700670	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57699400-57700000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:57699600-57699800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:57699600-57700200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:57699800-57700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr10:57699800-57700200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:57699800-57700400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:57700200-57701000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:57700400-57701000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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