Variant report

Variant	esv3418863
Chromosome Location	chr18:14852952-14862050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185184992	chr18:14852980-14852981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189869146	chr18:14853051-14853052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536377795	chr18:14853066-14853067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556602883	chr18:14853212-14853213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570191795	chr18:14853306-14853307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182447725	chr18:14853307-14853308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71350576	chr18:14853339-14853340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558677699	chr18:14853344-14853345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572414256	chr18:14853417-14853418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2747327	chr18:14853426-14853427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541291462	chr18:14853444-14853445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553508704	chr18:14853477-14853478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573560056	chr18:14853489-14853490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542398832	chr18:14853500-14853501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562600791	chr18:14853506-14853507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2775770	chr18:14853508-14853509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201106360	chr18:14853534-14853535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147444475	chr18:14853556-14853557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3126393	chr18:14853573-14853574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71305876	chr18:14853593-14853594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2865563	chr18:14853601-14853602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186097302	chr18:14853634-14853635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71305875	chr18:14853654-14853655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545234885	chr18:14853657-14853658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1713878	chr18:14853696-14853697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527607926	chr18:14853701-14853702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189720590	chr18:14853727-14853728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150652851	chr18:14853740-14853741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2259041	chr18:14853742-14853743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530094760	chr18:14853752-14853753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71305874	chr18:14853795-14853796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114390069	chr18:14853800-14853801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2487185	chr18:14853803-14853804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577059566	chr18:14853826-14853827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1630993	chr18:14853840-14853841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs180823480	chr18:14853902-14853903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202246400	chr18:14853911-14853912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185635035	chr18:14853914-14853915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552370156	chr18:14853926-14853927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565907556	chr18:14853943-14853944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9675827	chr18:14853970-14853971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1713886	chr18:14860231-14860232	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189291342	chr18:14860232-14860233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569895791	chr18:14860309-14860310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs538984699	chr18:14860321-14860322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs375429626	chr18:14860324-14860325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151258025	chr18:14860334-14860335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2945650	chr18:14860346-14860347	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs71321689	chr18:14860351-14860352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12456374	chr18:14860365-14860366	ZNF genes & repeats	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14852600-14853400	Weak transcription	Dnd41	blood
2	chr18:14853400-14854000	Enhancers	Dnd41	blood
3	chr18:14853600-14853800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14860200-14860400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:14860600-14861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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