Variant report

Variant	esv1817342
Chromosome Location	chr10:92463214-92470777
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	chr10:92458548..92460592-chr10:92463016..92464897,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544120575	chr10:92464734-92464735	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563712650	chr10:92464743-92464744	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111730497	chr10:92464780-92464781	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545120318	chr10:92464789-92464790	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539069176	chr10:92464800-92464801	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10881824	chr10:92468690-92468691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538160498	chr10:92468704-92468705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191422443	chr10:92468726-92468727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552467010	chr10:92468754-92468755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556408280	chr10:92468797-92468798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543008071	chr10:92468802-92468803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75909940	chr10:92468967-92468968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574913320	chr10:92468987-92468988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531896705	chr10:92468989-92468990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17099060	chr10:92468993-92468994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10573781	chr10:92469010-92469011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72443275	chr10:92469011-92469012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397770366	chr10:92469022-92469023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199824372	chr10:92469024-92469025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185087701	chr10:92469059-92469060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538256944	chr10:92469063-92469064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2800139	chr10:92469095-92469096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187844150	chr10:92469099-92469100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566568120	chr10:92469134-92469135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145328286	chr10:92469137-92469138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555358642	chr10:92469138-92469139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373131644	chr10:92469145-92469146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534080449	chr10:92469157-92469158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538172221	chr10:92469190-92469191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11186279	chr10:92469263-92469264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542191805	chr10:92469298-92469299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369206653	chr10:92469300-92469301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373969498	chr10:92469308-92469309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193180236	chr10:92469318-92469319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574085175	chr10:92469405-92469406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76705904	chr10:92469427-92469428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80294589	chr10:92469459-92469460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185245025	chr10:92469537-92469538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566772790	chr10:92469561-92469562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531870585	chr10:92469576-92469577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545337054	chr10:92469603-92469604	Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190099498	chr10:92469614-92469615	Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59257274	chr10:92469647-92469648	Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556464456	chr10:92469666-92469667	Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566411289	chr10:92469667-92469668	Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575600916	chr10:92469757-92469758	Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541820839	chr10:92469766-92469767	Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555113215	chr10:92469911-92469912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201139949	chr10:92469930-92469931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144923834	chr10:92470006-92470007	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92464600-92464800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:92468600-92469200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:92468800-92469200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:92468800-92469400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:92469200-92483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr10:92469600-92469800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:92469600-92469800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:92469800-92483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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