Variant report

Variant	esv3426139
Chromosome Location	chr18:40389004-40391052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566393236	chr18:40389005-40389006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73486734	chr18:40389072-40389073	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs72903100	chr18:40389073-40389074	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577428730	chr18:40389084-40389085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541395531	chr18:40389088-40389089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191850067	chr18:40389092-40389093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527583337	chr18:40389131-40389132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183574347	chr18:40389135-40389136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539126336	chr18:40389139-40389140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534100513	chr18:40389145-40389146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149198303	chr18:40389160-40389161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531565413	chr18:40389179-40389180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371200990	chr18:40389236-40389237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549731829	chr18:40389275-40389276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16976938	chr18:40389343-40389344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186749972	chr18:40389352-40389353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377199423	chr18:40389446-40389447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536631201	chr18:40389507-40389508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193041743	chr18:40389528-40389529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546943540	chr18:40389562-40389563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565376471	chr18:40389650-40389651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536531573	chr18:40389699-40389700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555271139	chr18:40389702-40389703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558612280	chr18:40389790-40389791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148387067	chr18:40389795-40389796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74466597	chr18:40389799-40389800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553537562	chr18:40389855-40389856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537614595	chr18:40389883-40389884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558891106	chr18:40389911-40389912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577363474	chr18:40389912-40389913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141573897	chr18:40389916-40389917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574843992	chr18:40389934-40389935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574922526	chr18:40389944-40389945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112779531	chr18:40389946-40389947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201121874	chr18:40389974-40389975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542538049	chr18:40390006-40390007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542502831	chr18:40390009-40390010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34091467	chr18:40390011-40390012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545827793	chr18:40390024-40390025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561210752	chr18:40390032-40390033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185743868	chr18:40390045-40390046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549908033	chr18:40390060-40390061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564741551	chr18:40390080-40390081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189818651	chr18:40390092-40390093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547124418	chr18:40390111-40390112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56117100	chr18:40390112-40390113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60655873	chr18:40390271-40390272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574216375	chr18:40390395-40390396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141039608	chr18:40390407-40390408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377432468	chr18:40390425-40390426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40387200-40389400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:40388000-40396800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:40388400-40389200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr18:40388400-40389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:40389200-40389400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:40389200-40389400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:40389400-40396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:40389400-40396200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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