Variant report

Variant	esv3442165
Chromosome Location	chr18:25471654-25474752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138982310	chr18:25473800-25473801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566995345	chr18:25473820-25473821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4547418	chr18:25473823-25473824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148904729	chr18:25473851-25473852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556958449	chr18:25473869-25473870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552277101	chr18:25473887-25473888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28624842	chr18:25473932-25473933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1822423	chr18:25473942-25473943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556480856	chr18:25474000-25474001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112996244	chr18:25474021-25474022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4800831	chr18:25474028-25474029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533140530	chr18:25474035-25474036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189820707	chr18:25474047-25474048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17492636	chr18:25474076-25474077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181927568	chr18:25474102-25474103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113444225	chr18:25474136-25474137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59169861	chr18:25474147-25474148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376792262	chr18:25474149-25474150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548423946	chr18:25474155-25474156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566709499	chr18:25474162-25474163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527475463	chr18:25474169-25474170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1899648	chr18:25474174-25474175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570849655	chr18:25474234-25474235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561719575	chr18:25474266-25474267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58193758	chr18:25474273-25474274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150543762	chr18:25474281-25474282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568430024	chr18:25474297-25474298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535779038	chr18:25474299-25474300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554020622	chr18:25474321-25474322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572645777	chr18:25474333-25474334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546069006	chr18:25474397-25474398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558627182	chr18:25474423-25474424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181997689	chr18:25474439-25474440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370632024	chr18:25474463-25474464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555679346	chr18:25474476-25474477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573831938	chr18:25474526-25474527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1443455	chr18:25474540-25474541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4556871	chr18:25474555-25474556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369545114	chr18:25474649-25474650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1443456	chr18:25474661-25474662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1443457	chr18:25474663-25474664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565899512	chr18:25474683-25474684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527523516	chr18:25474706-25474707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1443458	chr18:25474712-25474713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185006132	chr18:25474735-25474736	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25473800-25476200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:25474000-25475600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr18:25474600-25475600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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