Variant report

Variant	esv3432762
Chromosome Location	chr18:28337529-28340152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28331989..28334570-chr18:28337304..28339157,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555238766	chr18:28337530-28337531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572943832	chr18:28337598-28337599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376046779	chr18:28337601-28337602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190427490	chr18:28337602-28337603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576783012	chr18:28337616-28337617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543914327	chr18:28337675-28337676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562778943	chr18:28337685-28337686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529977081	chr18:28337747-28337748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547398396	chr18:28337782-28337783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547946743	chr18:28337799-28337800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375233597	chr18:28337800-28337801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112332045	chr18:28337801-28337802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200907459	chr18:28337817-28337818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386387309	chr18:28337818-28337819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59169481	chr18:28337819-28337820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370057833	chr18:28337820-28337821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548864955	chr18:28337858-28337859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565365087	chr18:28337865-28337866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559937359	chr18:28337886-28337887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80243585	chr18:28337909-28337910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546696678	chr18:28337965-28337966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571688731	chr18:28338032-28338033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539018197	chr18:28338042-28338043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550728337	chr18:28338050-28338051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35035239	chr18:28338054-28338055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569520991	chr18:28338120-28338121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113187989	chr18:28338122-28338123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555175601	chr18:28338170-28338171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201973199	chr18:28338172-28338173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544149695	chr18:28338237-28338238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573478822	chr18:28338249-28338250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372892200	chr18:28338266-28338267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200548962	chr18:28338286-28338287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2510415	chr18:28338303-28338304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373118897	chr18:28338354-28338355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201771047	chr18:28338375-28338376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200319358	chr18:28338379-28338380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8097097	chr18:28338381-28338382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55835504	chr18:28338385-28338386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56001647	chr18:28338391-28338392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12455513	chr18:28338436-28338437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12456086	chr18:28338437-28338438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376469118	chr18:28338451-28338452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376870990	chr18:28338481-28338482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181447543	chr18:28338482-28338483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371514168	chr18:28338509-28338510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374755367	chr18:28338518-28338519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7506049	chr18:28338519-28338520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368265673	chr18:28338535-28338536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12457874	chr18:28338542-28338543	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28329000-28342800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:28339800-28340000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr18:28340000-28343400	Weak transcription	H9 Cell Line	embryonic stem cell

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