Variant report

Variant	esv1813497
Chromosome Location	chr20:16236495-16241018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 233 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545680922	chr20:16238408-16238409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557669317	chr20:16238430-16238431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200970979	chr20:16238451-16238452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576033707	chr20:16238455-16238456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543037709	chr20:16238457-16238458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202240834	chr20:16238471-16238472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574491032	chr20:16238472-16238473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377380628	chr20:16238498-16238499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370771200	chr20:16238500-16238501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200389986	chr20:16238504-16238505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111453446	chr20:16238515-16238516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200770801	chr20:16238520-16238521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373635571	chr20:16238524-16238525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144290571	chr20:16238531-16238532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181924021	chr20:16238532-16238533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112937423	chr20:16238541-16238542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561375105	chr20:16238554-16238555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528535749	chr20:16238561-16238562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201030351	chr20:16238565-16238566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377135718	chr20:16238590-16238591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568083078	chr20:16238596-16238597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540722834	chr20:16238608-16238609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537100653	chr20:16238626-16238627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189175263	chr20:16238634-16238635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62643376	chr20:16238642-16238643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560222518	chr20:16238648-16238649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528663754	chr20:16238685-16238686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115469748	chr20:16238687-16238688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551190947	chr20:16238689-16238690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569612935	chr20:16238700-16238701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111220201	chr20:16238739-16238740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62648959	chr20:16238749-16238750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111165344	chr20:16238753-16238754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111165345	chr20:16238763-16238764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567258162	chr20:16238802-16238803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202142070	chr20:16238812-16238813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371022258	chr20:16238816-16238817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111064840	chr20:16238855-16238856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111067031	chr20:16238864-16238865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111212257	chr20:16238878-16238879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111212258	chr20:16238894-16238895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111165346	chr20:16238897-16238898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201941120	chr20:16238904-16238905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377220134	chr20:16238932-16238933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201291798	chr20:16238936-16238937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67114134	chr20:16238958-16238959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539211461	chr20:16238995-16238996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560676551	chr20:16239006-16239007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111165347	chr20:16239012-16239013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557632384	chr20:16239021-16239022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16238400-16240200	Weak transcription	Gastric	stomach
2	chr20:16238800-16239400	Weak transcription	Spleen	Spleen
3	chr20:16239600-16240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:16239800-16240200	Weak transcription	Spleen	Spleen
5	chr20:16240000-16240400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:16240000-16240400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:16240200-16240400	Enhancers	Spleen	Spleen
8	chr20:16240200-16240600	ZNF genes & repeats	Gastric	stomach
9	chr20:16240200-16242800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:16240400-16243400	Weak transcription	Spleen	Spleen
11	chr20:16240600-16246200	Weak transcription	Gastric	stomach

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