Variant report

Variant	esv2760469
Chromosome Location	chr18:28378826-28385298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529933515	chr18:28378832-28378833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370766277	chr18:28378837-28378838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375204085	chr18:28378854-28378855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114580915	chr18:28378914-28378915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566548108	chr18:28378934-28378935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568395050	chr18:28378966-28378967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16948455	chr18:28378973-28378974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577079739	chr18:28380415-28380416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564270024	chr18:28380512-28380513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111638186	chr18:28380552-28380553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368947049	chr18:28380563-28380564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138041926	chr18:28380591-28380592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574497826	chr18:28381040-28381041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557249137	chr18:28381044-28381045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112474583	chr18:28381052-28381053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553706781	chr18:28381138-28381139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572117271	chr18:28381142-28381143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200371293	chr18:28381190-28381191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372289012	chr18:28381194-28381195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180725608	chr18:28381205-28381206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139498191	chr18:28381229-28381230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2850267	chr18:28381240-28381241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142808069	chr18:28381268-28381269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369477939	chr18:28381283-28381284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530191893	chr18:28381308-28381309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7359731	chr18:28381353-28381354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560538330	chr18:28381366-28381367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191079577	chr18:28381371-28381372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371666226	chr18:28381389-28381390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374886148	chr18:28381513-28381514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556495855	chr18:28381518-28381519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183193902	chr18:28381548-28381549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552414874	chr18:28381564-28381565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570813727	chr18:28381592-28381593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368943508	chr18:28381593-28381594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547875202	chr18:28381621-28381622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531762493	chr18:28381636-28381637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2850268	chr18:28381745-28381746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144285238	chr18:28381754-28381755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527273516	chr18:28381774-28381775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535531688	chr18:28381818-28381819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553626165	chr18:28381823-28381824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565638520	chr18:28381872-28381873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2850269	chr18:28381879-28381880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528543962	chr18:28382065-28382066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113938163	chr18:28382107-28382108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186014036	chr18:28382114-28382115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570693748	chr18:28382123-28382124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190479038	chr18:28382179-28382180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183239809	chr18:28382206-28382207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
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
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28378400-28379000	Enhancers	K562	blood
2	chr18:28380400-28380600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:28381000-28390600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:28382000-28383200	Enhancers	Fetal Lung	lung

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