Variant report

Variant	esv3409985
Chromosome Location	chr18:14486852-14493550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-1	chr18:14490524-14490579	ENSG00000265766.1
2	lnc-POTEC-1	chr18:14490524-14490579	NR_024076

Extended variants
information (count: 243 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536118833	chr18:14487034-14487035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556525588	chr18:14487036-14487037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576408754	chr18:14487042-14487043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187776171	chr18:14487043-14487044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565410366	chr18:14487060-14487061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113026005	chr18:14487069-14487070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572547349	chr18:14487111-14487112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541663181	chr18:14487120-14487121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561433359	chr18:14487133-14487134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530432143	chr18:14487165-14487166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191260659	chr18:14487170-14487171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28520772	chr18:14487172-14487173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531244558	chr18:14487180-14487181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187062982	chr18:14487195-14487196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573484852	chr18:14487217-14487218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9956221	chr18:14487243-14487244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540463850	chr18:14487250-14487251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547202182	chr18:14487354-14487355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567077918	chr18:14487363-14487364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191701399	chr18:14487380-14487381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556223402	chr18:14487397-14487398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375645174	chr18:14487402-14487403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569915805	chr18:14487413-14487414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538682788	chr18:14487416-14487417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558962296	chr18:14487422-14487423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572588037	chr18:14487424-14487425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541497715	chr18:14487446-14487447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9945510	chr18:14487462-14487463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574980066	chr18:14487464-14487465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543981802	chr18:14487487-14487488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563856678	chr18:14487510-14487511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559145100	chr18:14487511-14487512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146245071	chr18:14487523-14487524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199533571	chr18:14487551-14487552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9956281	chr18:14487556-14487557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs200658137	chr18:14487596-14487597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79534893	chr18:14487609-14487610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140846670	chr18:14487636-14487637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199709084	chr18:14487637-14487638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375432269	chr18:14487644-14487645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367845212	chr18:14487647-14487648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527391239	chr18:14487650-14487651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370815859	chr18:14487660-14487661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547138846	chr18:14487676-14487677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143449996	chr18:14487687-14487688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529880278	chr18:14487714-14487715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74448204	chr18:14487715-14487716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8182388	chr18:14487748-14487749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368063758	chr18:14487772-14487773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544730860	chr18:14487813-14487814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14487000-14489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:14489800-14490000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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