Variant report

Variant	nsv1059650
Chromosome Location	chr18:40044096-40057284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575668969	chr18:40048238-40048239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs441362	chr18:40048254-40048255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150199389	chr18:40048255-40048256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577106493	chr18:40048310-40048311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs346229	chr18:40048313-40048314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558956551	chr18:40048320-40048321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529655194	chr18:40048324-40048325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541396078	chr18:40048365-40048366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563047282	chr18:40048401-40048402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34353758	chr18:40048479-40048480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530585751	chr18:40048516-40048517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552537143	chr18:40048538-40048539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571021976	chr18:40048557-40048558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111503227	chr18:40048599-40048600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73472899	chr18:40048656-40048657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568738410	chr18:40048665-40048666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535874103	chr18:40048668-40048669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142973535	chr18:40048672-40048673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188365517	chr18:40048694-40048695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12456702	chr18:40048706-40048707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59776713	chr18:40048723-40048724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558496500	chr18:40048798-40048799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576951170	chr18:40048830-40048831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138383408	chr18:40048831-40048832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143636486	chr18:40048838-40048839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574343248	chr18:40048848-40048849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541434886	chr18:40048862-40048863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536693148	chr18:40048880-40048881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563285894	chr18:40048953-40048954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180782151	chr18:40048957-40048958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs8087765	chr18:40048990-40048991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550239425	chr18:40048991-40048992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184292430	chr18:40049050-40049051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528701451	chr18:40049063-40049064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547189507	chr18:40049127-40049128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562373942	chr18:40049143-40049144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188640186	chr18:40049152-40049153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148696280	chr18:40049159-40049160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536006822	chr18:40049177-40049178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74986825	chr18:40052025-40052026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549626882	chr18:40052032-40052033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138394214	chr18:40052056-40052057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538862435	chr18:40052064-40052065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553908343	chr18:40052067-40052068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572448304	chr18:40052076-40052077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371322436	chr18:40052087-40052088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191583445	chr18:40052094-40052095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576372486	chr18:40052114-40052115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543768506	chr18:40052189-40052190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565235082	chr18:40052230-40052231	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40048200-40049200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr18:40052000-40052400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr18:40052000-40052800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:40052200-40052600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr18:40054400-40054800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:40054400-40055400	Enhancers	Fetal Kidney	kidney
7	chr18:40055200-40055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:40055200-40055600	Enhancers	Brain Hippocampus Middle	brain
9	chr18:40055400-40056000	Enhancers	Fetal Heart	heart
10	chr18:40055400-40056800	Weak transcription	Fetal Kidney	kidney
11	chr18:40056800-40057000	Enhancers	Fetal Kidney	kidney
12	chr18:40057000-40057400	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links