Variant report

Variant	nsv576750
Chromosome Location	chr18:40054268-40056744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531137146	chr18:40054444-40054445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552466296	chr18:40054527-40054528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570024189	chr18:40054529-40054530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564785160	chr18:40054530-40054531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190106471	chr18:40054615-40054616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542773931	chr18:40054665-40054666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181779300	chr18:40054671-40054672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186432896	chr18:40054709-40054710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139928511	chr18:40054712-40054713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569204509	chr18:40054743-40054744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537270261	chr18:40054762-40054763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558317857	chr18:40054816-40054817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577280217	chr18:40054817-40054818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546347003	chr18:40054859-40054860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576757505	chr18:40054895-40054896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73951598	chr18:40054925-40054926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552591453	chr18:40054939-40054940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556483889	chr18:40054959-40054960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541415461	chr18:40054977-40054978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147958736	chr18:40055040-40055041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575215683	chr18:40055066-40055067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs346232	chr18:40055079-40055080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145368208	chr18:40055136-40055137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78513932	chr18:40055192-40055193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147658390	chr18:40055264-40055265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149133964	chr18:40055273-40055274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542106722	chr18:40055333-40055334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529289593	chr18:40055383-40055384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112746313	chr18:40055434-40055435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569371450	chr18:40055435-40055436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533248625	chr18:40055528-40055529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552002384	chr18:40055541-40055542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114385035	chr18:40055603-40055604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562090135	chr18:40055726-40055727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189323389	chr18:40055770-40055771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10468964	chr18:40055787-40055788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181718444	chr18:40055820-40055821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577716788	chr18:40055837-40055838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556667443	chr18:40055839-40055840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369327496	chr18:40055911-40055912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562467182	chr18:40055913-40055914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545911266	chr18:40055951-40055952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143303923	chr18:40055958-40055959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573484507	chr18:40055968-40055969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544769816	chr18:40055973-40055974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540779703	chr18:40055986-40055987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562424045	chr18:40055988-40055989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532129459	chr18:40056002-40056003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529548143	chr18:40056053-40056054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373219944	chr18:40056060-40056061	Weak transcription	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40054400-40054800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:40054400-40055400	Enhancers	Fetal Kidney	kidney
3	chr18:40055200-40055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:40055200-40055600	Enhancers	Brain Hippocampus Middle	brain
5	chr18:40055400-40056000	Enhancers	Fetal Heart	heart
6	chr18:40055400-40056800	Weak transcription	Fetal Kidney	kidney

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