Variant report

Variant	esv3454199
Chromosome Location	chr20:21808777-21810016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376614313	chr20:21808793-21808794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561023678	chr20:21808806-21808807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562163480	chr20:21808810-21808811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531663772	chr20:21808838-21808839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551780729	chr20:21808871-21808872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369883200	chr20:21808875-21808876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537582827	chr20:21808905-21808906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16983004	chr20:21808908-21808909	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs187065425	chr20:21808919-21808920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191157329	chr20:21808955-21808956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541329821	chr20:21808975-21808976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553258702	chr20:21809030-21809031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573505370	chr20:21809057-21809058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545290847	chr20:21809060-21809061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565095112	chr20:21809067-21809068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563801079	chr20:21809070-21809071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577324241	chr20:21809112-21809113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564921213	chr20:21809117-21809118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201196775	chr20:21809118-21809119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183630812	chr20:21809129-21809130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532742608	chr20:21809135-21809136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6047650	chr20:21809157-21809158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373792581	chr20:21809173-21809174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547768059	chr20:21809174-21809175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543162296	chr20:21809201-21809202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562937428	chr20:21809205-21809206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145197418	chr20:21809270-21809271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137877989	chr20:21809286-21809287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559410970	chr20:21809323-21809324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115995400	chr20:21809329-21809330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551296296	chr20:21809354-21809355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77584949	chr20:21809386-21809387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11696327	chr20:21809409-21809410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4501018	chr20:21809423-21809424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567647766	chr20:21809428-21809429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76068216	chr20:21809429-21809430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142401994	chr20:21809455-21809456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567292345	chr20:21809475-21809476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190222112	chr20:21809523-21809524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6047651	chr20:21809568-21809569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144651363	chr20:21809577-21809578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577720613	chr20:21809613-21809614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138544878	chr20:21809645-21809646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117822569	chr20:21809655-21809656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149287872	chr20:21809773-21809774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538875001	chr20:21809778-21809779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144558842	chr20:21809782-21809783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542274203	chr20:21809806-21809807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75681771	chr20:21809863-21809864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2876613	chr20:21809918-21809919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21807400-21809200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:21807600-21808800	Enhancers	Colon Smooth Muscle	Colon
3	chr20:21808400-21810200	Weak transcription	Fetal Stomach	stomach
4	chr20:21808800-21816800	Weak transcription	Colon Smooth Muscle	Colon
5	chr20:21809200-21811800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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