Variant report

Variant	nsv820166
Chromosome Location	chr18:28721592-28723660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575921414	chr18:28721597-28721598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113417359	chr18:28721641-28721642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs33981754	chr18:28721642-28721643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3030250	chr18:28721646-28721647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34007224	chr18:28721653-28721654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543703276	chr18:28721663-28721664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2254172	chr18:28721664-28721665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2254170	chr18:28721697-28721698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185282295	chr18:28721775-28721776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559096906	chr18:28721803-28721804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190506456	chr18:28721838-28721839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552216811	chr18:28721849-28721850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564145287	chr18:28721856-28721857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531569103	chr18:28721857-28721858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182327934	chr18:28721880-28721881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12455973	chr18:28721882-28721883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs80122006	chr18:28721898-28721899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12458870	chr18:28721913-28721914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs12458919	chr18:28721922-28721923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs186127768	chr18:28721923-28721924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557838678	chr18:28721940-28721941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200073087	chr18:28721951-28721952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372473569	chr18:28721973-28721974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202140427	chr18:28722001-28722002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188243091	chr18:28722005-28722006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143090732	chr18:28722019-28722020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201608322	chr18:28722020-28722021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115620433	chr18:28722034-28722035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2577075	chr18:28722039-28722040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs372950032	chr18:28722059-28722060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552762894	chr18:28722083-28722084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180682852	chr18:28722088-28722089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113006680	chr18:28722096-28722097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541958154	chr18:28722099-28722100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2577074	chr18:28722103-28722104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs148434471	chr18:28722115-28722116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531833192	chr18:28722117-28722118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs36081634	chr18:28722133-28722134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375988840	chr18:28722154-28722155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75606589	chr18:28722167-28722168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371613653	chr18:28722193-28722194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529575943	chr18:28722215-28722216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185510482	chr18:28722229-28722230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566281071	chr18:28722237-28722238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7245200	chr18:28722256-28722257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551993122	chr18:28722293-28722294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113925091	chr18:28722294-28722295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571444834	chr18:28722295-28722296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572169252	chr18:28722316-28722317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139975082	chr18:28722346-28722347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28710600-28740800	Weak transcription	Primary T cells from cord blood	blood
2	chr18:28712600-28726200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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