Variant report

Variant	esv3337581
Chromosome Location	chr18:40387154-40390952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 68 )

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	rs539722755	chr18:40387198-40387199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557981552	chr18:40387211-40387212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540399533	chr18:40387258-40387259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564902318	chr18:40387259-40387260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148655697	chr18:40387276-40387277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533856441	chr18:40387277-40387278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555526631	chr18:40387327-40387328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573700194	chr18:40387342-40387343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576884807	chr18:40387443-40387444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543825427	chr18:40387464-40387465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117054406	chr18:40387466-40387467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530463472	chr18:40387480-40387481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578151087	chr18:40387507-40387508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545343063	chr18:40387512-40387513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560307725	chr18:40387534-40387535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200902595	chr18:40387538-40387539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs604565	chr18:40387547-40387548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190317235	chr18:40387549-40387550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151229557	chr18:40387570-40387571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181138523	chr18:40387574-40387575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139192669	chr18:40387577-40387578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533068323	chr18:40387597-40387598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551734658	chr18:40387654-40387655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73486729	chr18:40387656-40387657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189674129	chr18:40387695-40387696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34632965	chr18:40387757-40387758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373108065	chr18:40387789-40387790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375079680	chr18:40387790-40387791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59627781	chr18:40387791-40387792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182296297	chr18:40387804-40387805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149889903	chr18:40387848-40387849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146423027	chr18:40387857-40387858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58657075	chr18:40387934-40387935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577610804	chr18:40387966-40387967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552877058	chr18:40388005-40388006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554073441	chr18:40388045-40388046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572426929	chr18:40388080-40388081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542780378	chr18:40388104-40388105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73951757	chr18:40388112-40388113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190980082	chr18:40388191-40388192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543934957	chr18:40388210-40388211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367679684	chr18:40388239-40388240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529796232	chr18:40388299-40388300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184167402	chr18:40388397-40388398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188269900	chr18:40388412-40388413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11872412	chr18:40388421-40388422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566736082	chr18:40388440-40388441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566629288	chr18:40388445-40388446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56085814	chr18:40388542-40388543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141896476	chr18:40388543-40388544	Weak transcription Enhancers	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40382600-40387600	Weak transcription	Fetal Lung	lung
2	chr18:40384200-40387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:40384200-40387400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr18:40384200-40387800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:40387200-40389400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:40387400-40388800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:40387400-40389000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:40387600-40387800	Enhancers	Fetal Lung	lung
9	chr18:40387600-40388000	Enhancers	Brain Anterior Caudate	brain
10	chr18:40387600-40388400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:40387800-40388000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:40387800-40388200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:40387800-40388200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:40387800-40388400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr18:40387800-40388400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr18:40388000-40396800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:40388200-40388400	Enhancers	Fetal Brain Female	brain
18	chr18:40388400-40389000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:40388400-40389200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr18:40388400-40389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:40389200-40389400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr18:40389200-40389400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr18:40389400-40396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr18:40389400-40396200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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