Variant report

Variant	esv3455309
Chromosome Location	chr21:17377907-17378974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542664165	chr21:17377930-17377931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113350894	chr21:17377995-17377996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368198392	chr21:17377997-17377998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529808239	chr21:17378003-17378004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562993426	chr21:17378012-17378013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62217618	chr21:17378034-17378035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200455298	chr21:17378073-17378074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs398036103	chr21:17378074-17378075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531750876	chr21:17378096-17378097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116795628	chr21:17378113-17378114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371706462	chr21:17378126-17378127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564957550	chr21:17378161-17378162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534892775	chr21:17378169-17378170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562599067	chr21:17378190-17378191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531619717	chr21:17378240-17378241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs366082	chr21:17378312-17378313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567226646	chr21:17378386-17378387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529713148	chr21:17378408-17378409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552835348	chr21:17378415-17378416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142609319	chr21:17378433-17378434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538668876	chr21:17378504-17378505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186835763	chr21:17378528-17378529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs453844	chr21:17378543-17378544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs117651150	chr21:17378589-17378590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528016804	chr21:17378606-17378607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571763003	chr21:17378624-17378625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193199234	chr21:17378677-17378678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183383222	chr21:17378678-17378679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554047073	chr21:17378713-17378714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67491042	chr21:17378747-17378748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150988492	chr21:17378804-17378805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556313622	chr21:17378814-17378815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371769742	chr21:17378818-17378819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376571032	chr21:17378820-17378821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147139176	chr21:17378842-17378843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62217619	chr21:17378844-17378845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200196617	chr21:17378845-17378846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62217620	chr21:17378846-17378847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62217621	chr21:17378847-17378848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372666662	chr21:17378848-17378849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62217622	chr21:17378849-17378850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201229694	chr21:17378854-17378855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561158943	chr21:17378855-17378856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189182542	chr21:17378895-17378896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143491844	chr21:17378915-17378916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377310435	chr21:17378929-17378930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146653565	chr21:17378953-17378954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370071670	chr21:17378967-17378968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17376600-17380400	Weak transcription	Osteobl	bone

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