Variant report

Variant	esv3399708
Chromosome Location	chr18:24695404-24698302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141177141	chr18:24695458-24695459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529574763	chr18:24695460-24695461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150730603	chr18:24695462-24695463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139024456	chr18:24695525-24695526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548187738	chr18:24695556-24695557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561643264	chr18:24695590-24695591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149650041	chr18:24695592-24695593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370584886	chr18:24695602-24695603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545091323	chr18:24695614-24695615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146147178	chr18:24695670-24695671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73406615	chr18:24695775-24695776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200655011	chr18:24695781-24695782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12963367	chr18:24695852-24695853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143816961	chr18:24695856-24695857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73406617	chr18:24695872-24695873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574414489	chr18:24695877-24695878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541717798	chr18:24695882-24695883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182793814	chr18:24695899-24695900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146835124	chr18:24695910-24695911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148535039	chr18:24695916-24695917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549145272	chr18:24695976-24695977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548225920	chr18:24696041-24696042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114788406	chr18:24696074-24696075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567669406	chr18:24696138-24696139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368314696	chr18:24696168-24696169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544048623	chr18:24696191-24696192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2081642	chr18:24696206-24696207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111412416	chr18:24696215-24696216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529602927	chr18:24696216-24696217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142870162	chr18:24696241-24696242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185935705	chr18:24696308-24696309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2081641	chr18:24696313-24696314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546756704	chr18:24696333-24696334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374492740	chr18:24696341-24696342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538919729	chr18:24696407-24696408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367814664	chr18:24696409-24696410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151047631	chr18:24696431-24696432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539689196	chr18:24696617-24696618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140923459	chr18:24696645-24696646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570021206	chr18:24696702-24696703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568115821	chr18:24696752-24696753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551477128	chr18:24696753-24696754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150185500	chr18:24696788-24696789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190741899	chr18:24696790-24696791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184065466	chr18:24696903-24696904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569798750	chr18:24696945-24696946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144419527	chr18:24696946-24696947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539427336	chr18:24696987-24696988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558153961	chr18:24697012-24697013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147645426	chr18:24697029-24697030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
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
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	19651600	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24689200-24703600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:24693600-24707200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr18:24694200-24699400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr18:24695200-24699200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:24697600-24697800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:24697800-24699000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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