Variant report

Variant	esv1814546
Chromosome Location	chr10:91998416-92002491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10881771	chr10:91998512-91998513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs699200	chr10:91998574-91998575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568491779	chr10:91998618-91998619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143076263	chr10:91998690-91998691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113135697	chr10:91998698-91998699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574111610	chr10:91998701-91998702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376553335	chr10:91998707-91998708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536633163	chr10:91998714-91998715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556646144	chr10:91998717-91998718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78924469	chr10:91998840-91998841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144921732	chr10:91998894-91998895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141511298	chr10:91998902-91998903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77672876	chr10:91998912-91998913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572257506	chr10:91999102-91999103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145580931	chr10:91999108-91999109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs699199	chr10:91999112-91999113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573333674	chr10:91999191-91999192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570288721	chr10:91999200-91999201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541596064	chr10:91999207-91999208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138103717	chr10:91999236-91999237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs699198	chr10:91999262-91999263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142567870	chr10:91999326-91999327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545042493	chr10:91999393-91999394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564955930	chr10:91999423-91999424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527448765	chr10:91999462-91999463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547748213	chr10:91999479-91999480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561144568	chr10:91999538-91999539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114344732	chr10:91999581-91999582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549897282	chr10:91999597-91999598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150551994	chr10:91999598-91999599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs699197	chr10:91999624-91999625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552610586	chr10:91999639-91999640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs699196	chr10:91999655-91999656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs699195	chr10:91999669-91999670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149601040	chr10:91999698-91999699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs699194	chr10:91999714-91999715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76044657	chr10:91999784-91999785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144274991	chr10:91999796-91999797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112051261	chr10:91999814-91999815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541618689	chr10:91999816-91999817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376502056	chr10:91999846-91999847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555892226	chr10:91999859-91999860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371222546	chr10:91999865-91999866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575966774	chr10:91999911-91999912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116824889	chr10:91999920-91999921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369021649	chr10:91999948-91999949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564958135	chr10:91999990-91999991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548558222	chr10:92000105-92000106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572299027	chr10:92000190-92000191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186418429	chr10:92000215-92000216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91992600-92005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:92001400-92001800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:92001800-92006200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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