Variant report

Variant	nsv962972
Chromosome Location	chr18:40253793-40258249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8083876	chr18:40254428-40254429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536084603	chr18:40254459-40254460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551090979	chr18:40254529-40254530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145443691	chr18:40254554-40254555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374252523	chr18:40254555-40254556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35919759	chr18:40254557-40254558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201643910	chr18:40254558-40254559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375640353	chr18:40254571-40254572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558066294	chr18:40255220-40255221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562416626	chr18:40255265-40255266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9959873	chr18:40255279-40255280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192559015	chr18:40255293-40255294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9960125	chr18:40255294-40255295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184368431	chr18:40255295-40255296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551715351	chr18:40255303-40255304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566734639	chr18:40255326-40255327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189648352	chr18:40255327-40255328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371016877	chr18:40255352-40255353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568025556	chr18:40255417-40255418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9960317	chr18:40255422-40255423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532932129	chr18:40255470-40255471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374953916	chr18:40255478-40255479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575265016	chr18:40255481-40255482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs8088723	chr18:40255491-40255492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369071482	chr18:40255492-40255493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557864129	chr18:40255518-40255519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571075816	chr18:40255540-40255541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540270577	chr18:40255678-40255679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542758906	chr18:40255734-40255735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77435303	chr18:40255757-40255758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529616507	chr18:40255764-40255765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376402965	chr18:40255767-40255768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544791724	chr18:40255772-40255773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550362571	chr18:40255808-40255809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185042044	chr18:40255818-40255819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144912167	chr18:40255820-40255821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36104576	chr18:40255859-40255860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145742470	chr18:40255873-40255874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58120519	chr18:40255896-40255897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566999059	chr18:40255903-40255904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78911366	chr18:40255910-40255911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548970770	chr18:40255916-40255917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540487064	chr18:40255943-40255944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567988824	chr18:40255974-40255975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535379542	chr18:40255979-40255980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545232443	chr18:40255995-40255996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550887063	chr18:40256015-40256016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116935169	chr18:40256039-40256040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565217685	chr18:40256074-40256075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188986718	chr18:40256085-40256086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40253600-40253800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr18:40254400-40254600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr18:40255200-40255400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr18:40255400-40268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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