Variant report

Variant	esv3354552
Chromosome Location	chr18:24789654-24793852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8087183	chr18:24789721-24789722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180780164	chr18:24789782-24789783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184416834	chr18:24789785-24789786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189659891	chr18:24789788-24789789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574182356	chr18:24789798-24789799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535091027	chr18:24789820-24789821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553618299	chr18:24789865-24789866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578108740	chr18:24789866-24789867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145453863	chr18:24789887-24789888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572558946	chr18:24789924-24789925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564001816	chr18:24789928-24789929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148594021	chr18:24789967-24789968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543017731	chr18:24789999-24790000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561320997	chr18:24790000-24790001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145636965	chr18:24790054-24790055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540711041	chr18:24790072-24790073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181256376	chr18:24790088-24790089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533147152	chr18:24790097-24790098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551427071	chr18:24790157-24790158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185621337	chr18:24790185-24790186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530667305	chr18:24790201-24790202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558179780	chr18:24790227-24790228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190424894	chr18:24790253-24790254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181629568	chr18:24790284-24790285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147737532	chr18:24790286-24790287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186142779	chr18:24790318-24790319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76305998	chr18:24790369-24790370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192010876	chr18:24790381-24790382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572119090	chr18:24790416-24790417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73944549	chr18:24790445-24790446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182651542	chr18:24790496-24790497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576982170	chr18:24790651-24790652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542880509	chr18:24790662-24790663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543026833	chr18:24790678-24790679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372369905	chr18:24790680-24790681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367860062	chr18:24790697-24790698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540772857	chr18:24790733-24790734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546847304	chr18:24790742-24790743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146026356	chr18:24790802-24790803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561392089	chr18:24790876-24790877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538840791	chr18:24790885-24790886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111285508	chr18:24790909-24790910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545188811	chr18:24790928-24790929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571826060	chr18:24790937-24790938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187607403	chr18:24790940-24790941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530847661	chr18:24790963-24790964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549281134	chr18:24790964-24790965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551121785	chr18:24790973-24790974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146679725	chr18:24790976-24790977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528487386	chr18:24790977-24790978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24788000-24793000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:24788800-24789800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:24791400-24793000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr18:24791800-24793200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr18:24792000-24792200	Enhancers	HMEC	breast
6	chr18:24792200-24794000	Weak transcription	HMEC	breast
7	chr18:24793000-24793200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:24793000-24793400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:24793000-24793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr18:24793000-24793800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:24793000-24793800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:24793000-24794000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:24793000-24794200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:24793200-24793800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr18:24793200-24793800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr18:24793200-24794400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr18:24793200-24803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:24793400-24793800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:24793400-24794000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr18:24793400-24795800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr18:24793600-24794400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr18:24793800-24794800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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