Variant report

Variant	esv2763180
Chromosome Location	chr18:25250167-25257562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 254 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558719954	chr18:25250177-25250178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9949461	chr18:25250248-25250249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191338125	chr18:25250376-25250377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141300785	chr18:25250443-25250444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10677244	chr18:25250444-25250445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386387247	chr18:25250451-25250452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397757970	chr18:25250452-25250453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75243230	chr18:25250453-25250454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556204494	chr18:25250460-25250461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6508496	chr18:25250464-25250465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201769721	chr18:25250473-25250474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541779173	chr18:25250475-25250476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143600758	chr18:25250476-25250477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61468768	chr18:25250503-25250504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16943955	chr18:25250525-25250526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572179122	chr18:25250625-25250626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77021156	chr18:25250738-25250739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8090732	chr18:25250753-25250754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs62100704	chr18:25250789-25250790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549726700	chr18:25250807-25250808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149494810	chr18:25250823-25250824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529565431	chr18:25250871-25250872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143957943	chr18:25251017-25251018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115871827	chr18:25251021-25251022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578108073	chr18:25251037-25251038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540067737	chr18:25251051-25251052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148625902	chr18:25251084-25251085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570522126	chr18:25251097-25251098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537943233	chr18:25251175-25251176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545524138	chr18:25251193-25251194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35917058	chr18:25251206-25251207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377361695	chr18:25251252-25251253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556095701	chr18:25251254-25251255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183486270	chr18:25251255-25251256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144228148	chr18:25251256-25251257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553807917	chr18:25251274-25251275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560181842	chr18:25251313-25251314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571904424	chr18:25251322-25251323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545631356	chr18:25251323-25251324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563953122	chr18:25251333-25251334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147344192	chr18:25251370-25251371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529289524	chr18:25251453-25251454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543533886	chr18:25251505-25251506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188379582	chr18:25251516-25251517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140229989	chr18:25251523-25251524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529306932	chr18:25251530-25251531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190767177	chr18:25251540-25251541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543013078	chr18:25251559-25251560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145641239	chr18:25251597-25251598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568045805	chr18:25251603-25251604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute myeloid leukemia	19651600	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25249600-25255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:25254200-25255800	Enhancers	Dnd41	blood

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