Variant report

Variant	nsv551062
Chromosome Location	chr10:58215451-58296254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:58279559..58282795-chr10:58291482..58294244,3	K562	blood:
2	chr10:58226384..58228084-chr10:58231233..58232927,2	K562	blood:
3	chr10:58228483..58231037-chr10:58240976..58242980,2	MCF-7	breast:
4	chr10:58225018..58228182-chr10:58230388..58232933,3	K562	blood:
5	chr10:58293053..58295597-chr10:58297273..58300708,4	K562	blood:
6	chr10:58225018..58228182-chr10:58230388..58232933,3	K562	blood:
7	chr10:58228483..58231037-chr10:58240976..58242980,2	MCF-7	breast:
8	chr10:58279559..58281447-chr10:58292091..58294244,2	K562	blood:
9	chr10:58279559..58281447-chr10:58292091..58294244,2	K562	blood:
10	chr10:58279559..58282795-chr10:58291482..58294244,3	K562	blood:
11	chr10:58226384..58228084-chr10:58231233..58232927,2	K562	blood:

No data

Extended variants
information (count: 430 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6481208	chr10:58215451-58215452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558027448	chr10:58215463-58215464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371258717	chr10:58215484-58215485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183996655	chr10:58215501-58215502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572375539	chr10:58215556-58215557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534115921	chr10:58215557-58215558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555777150	chr10:58215614-58215615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73281989	chr10:58215629-58215630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544345237	chr10:58215666-58215667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563009580	chr10:58215672-58215673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74137636	chr10:58215674-58215675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545195488	chr10:58215706-58215707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190393549	chr10:58215709-58215710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192893561	chr10:58215757-58215758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549295942	chr10:58215785-58215786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34636475	chr10:58215788-58215789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561501957	chr10:58215805-58215806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147341728	chr10:58215813-58215814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550355201	chr10:58215833-58215834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150007961	chr10:58215843-58215844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368904780	chr10:58215846-58215847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560307142	chr10:58215850-58215851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185794511	chr10:58215853-58215854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539197429	chr10:58215874-58215875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190320715	chr10:58215922-58215923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181771776	chr10:58215937-58215938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7923120	chr10:58215968-58215969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555714243	chr10:58215978-58215979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573910257	chr10:58216005-58216006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538241930	chr10:58216022-58216023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556329778	chr10:58216030-58216031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558449701	chr10:58216031-58216032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545133999	chr10:58216081-58216082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560293628	chr10:58216102-58216103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572329568	chr10:58216145-58216146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578250696	chr10:58216151-58216152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185164099	chr10:58216157-58216158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561637724	chr10:58216213-58216214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531955690	chr10:58216216-58216217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550539962	chr10:58216226-58216227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187967787	chr10:58216258-58216259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564230048	chr10:58216268-58216269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531830147	chr10:58216281-58216282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373549939	chr10:58216291-58216292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181235170	chr10:58216336-58216337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567816514	chr10:58216350-58216351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536863878	chr10:58216373-58216374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549252489	chr10:58216400-58216401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112318724	chr10:58216437-58216438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200290225	chr10:58216454-58216455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58214000-58216600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:58216600-58217000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:58216600-58217200	ZNF genes & repeats	Aorta	Aorta
4	chr10:58216600-58225600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:58225600-58226000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:58226000-58226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:58247400-58247800	Enhancers	Ovary	ovary
8	chr10:58295400-58295600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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