Variant report

Variant	esv3356167
Chromosome Location	chr21:28424381-28425579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-20	chr21:28424720-28424812	NONHSAT081555

Extended variants
information (count: 72 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373396235	chr21:28424442-28424443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113761240	chr21:28424443-28424444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528302025	chr21:28424466-28424467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148683736	chr21:28424487-28424488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534151195	chr21:28424488-28424489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571539540	chr21:28424490-28424491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576094117	chr21:28424502-28424503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115186531	chr21:28424507-28424508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556529389	chr21:28424579-28424580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576744944	chr21:28424581-28424582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570106453	chr21:28424602-28424603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140789440	chr21:28424609-28424610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67130669	chr21:28424610-28424611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535848683	chr21:28424622-28424623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398121559	chr21:28424623-28424624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201362917	chr21:28424624-28424625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202123641	chr21:28424632-28424633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13049411	chr21:28424649-28424650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs13050056	chr21:28424656-28424657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs9976550	chr21:28424664-28424665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72125518	chr21:28424677-28424678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28668780	chr21:28424678-28424679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72000903	chr21:28424689-28424690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9976558	chr21:28424694-28424695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201391283	chr21:28424695-28424696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545584818	chr21:28424699-28424700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28827807	chr21:28424708-28424709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71333115	chr21:28424716-28424717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72355980	chr21:28424717-28424718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4423683	chr21:28424718-28424719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28833792	chr21:28424734-28424735	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs371241414	chr21:28424736-28424737	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs561736239	chr21:28424759-28424760	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs528883848	chr21:28424772-28424773	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs72157299	chr21:28424776-28424777	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs67422060	chr21:28424798-28424799	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs71183597	chr21:28424801-28424802	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs9976822	chr21:28424823-28424824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28787725	chr21:28424827-28424828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4362646	chr21:28424831-28424832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs202181483	chr21:28424835-28424836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373918633	chr21:28424849-28424850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201668055	chr21:28424850-28424851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559035875	chr21:28424912-28424913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200357172	chr21:28424919-28424920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371250629	chr21:28424932-28424933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201710379	chr21:28424941-28424942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78681598	chr21:28424942-28424943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13050428	chr21:28424945-28424946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13049470	chr21:28424946-28424947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28419800-28424800	Weak transcription	Ovary	ovary
2	chr21:28420600-28426200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:28420600-28431400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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