Variant report

Variant	esv3365632
Chromosome Location	chr18:30864954-30869052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145861148	chr18:30865011-30865012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75995709	chr18:30865037-30865038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528539958	chr18:30865047-30865048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545475637	chr18:30865059-30865060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565283863	chr18:30865085-30865086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111336931	chr18:30865104-30865105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184267742	chr18:30865113-30865114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545561979	chr18:30865132-30865133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146428971	chr18:30865161-30865162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551232298	chr18:30865163-30865164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561530206	chr18:30865198-30865199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538905387	chr18:30865259-30865260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370822495	chr18:30865281-30865282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189212558	chr18:30865326-30865327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76985178	chr18:30865329-30865330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200891286	chr18:30865342-30865343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548952118	chr18:30865355-30865356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11081796	chr18:30865382-30865383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534359247	chr18:30865461-30865462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551450249	chr18:30865469-30865470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571281435	chr18:30865489-30865490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536831713	chr18:30865491-30865492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542488719	chr18:30865509-30865510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112079522	chr18:30865668-30865669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181779657	chr18:30865728-30865729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562188130	chr18:30865744-30865745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573554881	chr18:30865766-30865767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28521216	chr18:30865768-30865769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541140931	chr18:30865777-30865778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140686284	chr18:30865796-30865797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186362583	chr18:30865812-30865813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573187311	chr18:30865930-30865931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200911265	chr18:30865935-30865936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375908166	chr18:30865939-30865940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202189970	chr18:30865940-30865941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386387357	chr18:30865954-30865955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60956262	chr18:30865955-30865956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374835458	chr18:30865956-30865957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367818746	chr18:30865957-30865958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545100534	chr18:30866000-30866001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150123906	chr18:30866026-30866027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575824085	chr18:30866031-30866032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544791632	chr18:30866071-30866072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112505551	chr18:30866127-30866128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114658495	chr18:30866227-30866228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533161391	chr18:30866230-30866231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191010083	chr18:30866242-30866243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138446133	chr18:30866290-30866291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181496957	chr18:30866360-30866361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73419983	chr18:30866382-30866383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30863000-30868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:30863200-30868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:30868000-30868400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:30868000-30868400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr18:30868200-30868600	Enhancers	HSMM	muscle
6	chr18:30868400-30868600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr18:30868600-30868800	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links