Variant report

Variant	nsv978570
Chromosome Location	chr18:24478685-24481857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79833973	chr18:24478793-24478794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75450055	chr18:24478823-24478824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72883998	chr18:24478851-24478852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528125635	chr18:24478945-24478946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546595380	chr18:24478994-24478995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192753223	chr18:24478997-24478998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538690050	chr18:24479015-24479016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556884050	chr18:24479038-24479039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184215720	chr18:24479039-24479040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189597150	chr18:24479115-24479116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547727828	chr18:24479158-24479159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1422667	chr18:24479165-24479166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112476464	chr18:24479171-24479172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181897946	chr18:24479181-24479182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79666441	chr18:24479189-24479190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577282410	chr18:24479198-24479199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184708744	chr18:24479228-24479229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562838683	chr18:24479331-24479332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189079941	chr18:24479395-24479396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74976623	chr18:24479430-24479431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149768608	chr18:24479450-24479451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62083755	chr18:24479465-24479466	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76549386	chr18:24479502-24479503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181504642	chr18:24479507-24479508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs630285	chr18:24479562-24479563	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145124556	chr18:24479575-24479576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550700580	chr18:24479577-24479578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568853138	chr18:24479607-24479608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536079106	chr18:24479623-24479624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186623577	chr18:24479637-24479638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11874994	chr18:24479643-24479644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs141138868	chr18:24479651-24479652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144849339	chr18:24479688-24479689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577214710	chr18:24479713-24479714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74931298	chr18:24479747-24479748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537840896	chr18:24479918-24479919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34924225	chr18:24479951-24479952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1030198	chr18:24479960-24479961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74938327	chr18:24479964-24479965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563485907	chr18:24479982-24479983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138682446	chr18:24479989-24479990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560631953	chr18:24480022-24480023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572314	chr18:24480026-24480027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373557349	chr18:24480043-24480044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140317440	chr18:24480095-24480096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564282769	chr18:24480099-24480100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191068939	chr18:24480113-24480114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181011289	chr18:24480114-24480115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185030794	chr18:24480119-24480120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529714409	chr18:24480142-24480143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
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
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
Sudden cardiac death	19188705	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24476000-24483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:24479200-24479600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:24479200-24479600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:24479600-24480800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:24481000-24481200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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