Variant report

Variant	esv3428647
Chromosome Location	chr11:18889067-18891942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 55 )

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	rs114152689	chr11:18889067-18889068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564056666	chr11:18889108-18889109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553794854	chr11:18889120-18889121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571829528	chr11:18889121-18889122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558668884	chr11:18889135-18889136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371630350	chr11:18889142-18889143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145703604	chr11:18889161-18889162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563721988	chr11:18889169-18889170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74642044	chr11:18889203-18889204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544884768	chr11:18889218-18889219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563040684	chr11:18889225-18889226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530271666	chr11:18889227-18889228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375091746	chr11:18889231-18889232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548515234	chr11:18889248-18889249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566946247	chr11:18889263-18889264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531311229	chr11:18889265-18889266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149018616	chr11:18889307-18889308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147107943	chr11:18889349-18889350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71486884	chr11:18889394-18889395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538291210	chr11:18889401-18889402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1384642	chr11:18889441-18889442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568275136	chr11:18889451-18889452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182402584	chr11:18889499-18889500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553663067	chr11:18889512-18889513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376041904	chr11:18889516-18889517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186441222	chr11:18889600-18889601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539136288	chr11:18889651-18889652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557475750	chr11:18889848-18889849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575584545	chr11:18889885-18889886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189676585	chr11:18889959-18889960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563159495	chr11:18889964-18889965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144478209	chr11:18889982-18889983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377301555	chr11:18889984-18889985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367956115	chr11:18890002-18890003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575055356	chr11:18890024-18890025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7935212	chr11:18890042-18890043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182310617	chr11:18890045-18890046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115282971	chr11:18890070-18890071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143956500	chr11:18890082-18890083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564576220	chr11:18890091-18890092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116684025	chr11:18890102-18890103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549928007	chr11:18890117-18890118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368808938	chr11:18890122-18890123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146962991	chr11:18890133-18890134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114398332	chr11:18890195-18890196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11024850	chr11:18890206-18890207	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549225740	chr11:18890289-18890290	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565533342	chr11:18890290-18890291	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147995005	chr11:18890354-18890355	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs10400404	chr11:18890447-18890448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18881800-18899800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18890200-18890400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--

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