Variant report

Variant	nsv960674
Chromosome Location	chr18:14751526-14755190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr18:14752926-14753092	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-1210P	TF binding region

Extended variants
information (count: 175 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57497008	chr18:14751546-14751547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397759007	chr18:14751550-14751551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529797159	chr18:14751564-14751565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186707218	chr18:14751598-14751599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144117249	chr18:14751607-14751608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9956874	chr18:14751622-14751623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552485472	chr18:14751626-14751627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565635095	chr18:14751684-14751685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9303855	chr18:14751693-14751694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370421822	chr18:14751745-14751746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34223858	chr18:14751770-14751771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192434563	chr18:14751787-14751788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532818859	chr18:14751805-14751806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73960685	chr18:14751806-14751807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35932454	chr18:14751807-14751808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557131085	chr18:14751843-14751844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140897177	chr18:14751844-14751845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539632031	chr18:14751854-14751855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386801508	chr18:14751864-14751865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55928199	chr18:14751865-14751866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551036856	chr18:14751873-14751874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573554323	chr18:14751909-14751910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9957160	chr18:14751945-14751946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563063534	chr18:14751949-14751950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183780507	chr18:14751965-14751966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34086359	chr18:14751984-14751985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535692415	chr18:14752017-14752018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187635362	chr18:14752071-14752072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563196380	chr18:14752085-14752086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556946007	chr18:14752104-14752105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532383710	chr18:14752142-14752143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545572278	chr18:14752156-14752157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530276427	chr18:14752182-14752183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367578078	chr18:14752217-14752218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189771900	chr18:14752222-14752223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528387606	chr18:14752225-14752226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182071594	chr18:14752237-14752238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9303856	chr18:14752272-14752273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148829483	chr18:14752273-14752274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9748373	chr18:14752307-14752308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551097647	chr18:14752346-14752347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548803030	chr18:14752349-14752350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555894739	chr18:14752416-14752417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570851735	chr18:14752437-14752438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567340572	chr18:14752450-14752451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555981740	chr18:14752482-14752483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138223066	chr18:14752484-14752485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540049844	chr18:14752506-14752507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199804777	chr18:14752550-14752551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200428778	chr18:14752601-14752602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14749200-14768000	Weak transcription	Osteobl	bone

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