Variant report

Variant	nsv576737
Chromosome Location	chr18:40050363-40057525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs74986825	chr18:40052025-40052026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549626882	chr18:40052032-40052033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138394214	chr18:40052056-40052057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538862435	chr18:40052064-40052065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553908343	chr18:40052067-40052068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572448304	chr18:40052076-40052077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371322436	chr18:40052087-40052088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191583445	chr18:40052094-40052095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576372486	chr18:40052114-40052115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543768506	chr18:40052189-40052190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565235082	chr18:40052230-40052231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577225084	chr18:40052266-40052267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545263336	chr18:40052287-40052288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560384632	chr18:40052326-40052327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115602530	chr18:40052328-40052329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560423907	chr18:40052329-40052330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577344233	chr18:40052330-40052331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561202964	chr18:40052338-40052339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375893247	chr18:40052353-40052354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370915822	chr18:40052397-40052398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531230438	chr18:40052448-40052449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549703779	chr18:40052465-40052466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571265649	chr18:40052490-40052491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546112026	chr18:40052536-40052537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117808962	chr18:40052553-40052554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142402927	chr18:40052611-40052612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565929798	chr18:40052620-40052621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536585406	chr18:40052625-40052626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201936531	chr18:40052633-40052634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570303234	chr18:40052639-40052640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537068606	chr18:40052644-40052645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558898291	chr18:40052651-40052652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183769807	chr18:40052732-40052733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs346230	chr18:40052746-40052747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35384569	chr18:40052765-40052766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531901088	chr18:40052775-40052776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531137146	chr18:40054444-40054445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552466296	chr18:40054527-40054528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570024189	chr18:40054529-40054530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564785160	chr18:40054530-40054531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190106471	chr18:40054615-40054616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542773931	chr18:40054665-40054666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181779300	chr18:40054671-40054672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186432896	chr18:40054709-40054710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139928511	chr18:40054712-40054713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569204509	chr18:40054743-40054744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537270261	chr18:40054762-40054763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558317857	chr18:40054816-40054817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577280217	chr18:40054817-40054818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546347003	chr18:40054859-40054860	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	chr18:40052000-40052400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr18:40052000-40052800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:40052200-40052600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr18:40054400-40054800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:40054400-40055400	Enhancers	Fetal Kidney	kidney
6	chr18:40055200-40055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:40055200-40055600	Enhancers	Brain Hippocampus Middle	brain
8	chr18:40055400-40056000	Enhancers	Fetal Heart	heart
9	chr18:40055400-40056800	Weak transcription	Fetal Kidney	kidney
10	chr18:40056800-40057000	Enhancers	Fetal Kidney	kidney
11	chr18:40057000-40057400	Weak transcription	Fetal Kidney	kidney
12	chr18:40057400-40057600	Enhancers	Fetal Kidney	kidney

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