Variant report

Variant	esv2754112
Chromosome Location	chr20:40919680-40938007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 639 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34514663	chr20:40919823-40919824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574578406	chr20:40919865-40919866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188406936	chr20:40919896-40919897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75639506	chr20:40919934-40919935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6124439	chr20:40919935-40919936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575723284	chr20:40920037-40920038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139739989	chr20:40920086-40920087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191648910	chr20:40920141-40920142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549705440	chr20:40920144-40920145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569562361	chr20:40920185-40920186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184518640	chr20:40920188-40920189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552325657	chr20:40920198-40920199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572359924	chr20:40920237-40920238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113602976	chr20:40920243-40920244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189301036	chr20:40920305-40920306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17316539	chr20:40920313-40920314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs192651572	chr20:40920318-40920319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144436321	chr20:40920327-40920328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184389488	chr20:40920354-40920355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17225206	chr20:40920359-40920360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556480282	chr20:40920426-40920427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189269761	chr20:40920427-40920428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73120061	chr20:40920480-40920481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543617158	chr20:40920516-40920517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181156011	chr20:40920551-40920552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376146579	chr20:40920577-40920578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561896234	chr20:40920579-40920580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567890020	chr20:40920635-40920636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146114832	chr20:40920638-40920639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186387709	chr20:40920639-40920640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563269041	chr20:40920648-40920649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532126639	chr20:40920662-40920663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552233948	chr20:40920671-40920672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs207477579	chr20:40920714-40920715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140101404	chr20:40920718-40920719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528245006	chr20:40920724-40920725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188891199	chr20:40920727-40920728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578195140	chr20:40920771-40920772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568172665	chr20:40920807-40920808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537318075	chr20:40920813-40920814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181592624	chr20:40920887-40920888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570751806	chr20:40920908-40920909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527629031	chr20:40920945-40920946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538637945	chr20:40920951-40920952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558574439	chr20:40921003-40921004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371800746	chr20:40921054-40921055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142332710	chr20:40921060-40921061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541134808	chr20:40921106-40921107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186253959	chr20:40921127-40921128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1573706	chr20:40921149-40921150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:80)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
Colorectal cancer	16774939	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40919800-40922200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr20:40921200-40921800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:40921400-40921800	Enhancers	Pancreas	Pancrea
4	chr20:40922400-40922600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr20:40923000-40934200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:40931400-40931800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr20:40931600-40932800	Enhancers	Fetal Brain Male	brain
8	chr20:40934200-40936000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:40936000-40942000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:40936800-40939200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr20:40937000-40938200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr20:40937200-40938000	Enhancers	Fetal Brain Female	brain
13	chr20:40937200-40938400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr20:40937200-40939200	Enhancers	Brain Germinal Matrix	brain
15	chr20:40937400-40937800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr20:40937400-40938000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr20:40937400-40938200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr20:40937400-40938200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:40937400-40938600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:40937600-40939200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:40937800-40938200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr20:40938000-40939400	Weak transcription	Fetal Brain Female	brain

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