Variant report

Variant	esv3386380
Chromosome Location	chr18:40188292-40188478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs643272	chr18:40188321-40188322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2849777	chr18:40188334-40188335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199898004	chr18:40188348-40188349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5824440	chr18:40188352-40188353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71882082	chr18:40188354-40188355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557884710	chr18:40188355-40188356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564193368	chr18:40188374-40188375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187198378	chr18:40188388-40188389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553946273	chr18:40188391-40188392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71352041	chr18:40188396-40188397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71352042	chr18:40188400-40188401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71352043	chr18:40188404-40188405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71352044	chr18:40188408-40188409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59241927	chr18:40188410-40188411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62089887	chr18:40188412-40188413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71352045	chr18:40188413-40188414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55745229	chr18:40188416-40188417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574655608	chr18:40188418-40188419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1943174	chr18:40188420-40188421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145540273	chr18:40188421-40188422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79850809	chr18:40188424-40188425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370340487	chr18:40188425-40188426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80043901	chr18:40188428-40188429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369211715	chr18:40188432-40188433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147949852	chr18:40188433-40188434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561853096	chr18:40188434-40188435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200493297	chr18:40188435-40188436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74260311	chr18:40188460-40188461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40186600-40189000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr18:40187600-40193800	Weak transcription	Fetal Muscle Leg	muscle

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