Variant report

Variant	esv3353774
Chromosome Location	chr20:16239073-16239812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199514333	chr20:16239102-16239103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146049823	chr20:16239107-16239108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111165350	chr20:16239117-16239118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199925490	chr20:16239126-16239127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117344667	chr20:16239127-16239128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111163913	chr20:16239128-16239129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370062469	chr20:16239136-16239137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372682509	chr20:16239149-16239150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200711873	chr20:16239153-16239154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553479777	chr20:16239154-16239155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111067033	chr20:16239168-16239169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200417712	chr20:16239180-16239181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111165351	chr20:16239181-16239182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371480787	chr20:16239229-16239230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569958633	chr20:16239239-16239240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149300803	chr20:16239248-16239249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376087926	chr20:16239267-16239268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111067034	chr20:16239279-16239280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111220182	chr20:16239283-16239284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111220163	chr20:16239293-16239294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114612505	chr20:16239313-16239314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181107292	chr20:16239318-16239319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111067035	chr20:16239362-16239363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111163914	chr20:16239376-16239377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111220175	chr20:16239389-16239390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544796232	chr20:16239412-16239413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563154129	chr20:16239420-16239421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72488685	chr20:16239426-16239427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143472806	chr20:16239429-16239430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117070501	chr20:16239434-16239435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185701163	chr20:16239446-16239447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546303528	chr20:16239460-16239461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117194910	chr20:16239465-16239466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200421199	chr20:16239514-16239515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200265294	chr20:16239566-16239567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538777688	chr20:16239568-16239569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201539706	chr20:16239569-16239570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116443243	chr20:16239608-16239609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201355586	chr20:16239609-16239610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572390941	chr20:16239630-16239631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199674383	chr20:16239648-16239649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113356804	chr20:16239660-16239661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112000645	chr20:16239664-16239665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78095690	chr20:16239683-16239684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113428893	chr20:16239693-16239694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74210816	chr20:16239700-16239701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368126260	chr20:16239718-16239719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199626110	chr20:16239722-16239723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199871725	chr20:16239725-16239726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112192831	chr20:16239728-16239729	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:4 , 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

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