Variant report

Variant	esv2760690
Chromosome Location	chr21:28016198-28026512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28022472..28024040-chr21:28031555..28033867,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-17	chr21:28016588-28016603	NONHSAT081547
2	lnc-GABPA-17	chr21:28016569-28016603	l_2184_NR_024357
3	lnc-GABPA-17	chr21:28018989-28019071	NONHSAT081548

Extended variants
information (count: 253 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73173929	chr21:28019011-28019012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs190187424	chr21:28019017-28019018	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs527696815	chr21:28019060-28019061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs4993915	chr21:28019065-28019066	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569728507	chr21:28021407-28021408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187827380	chr21:28021448-28021449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113633252	chr21:28021450-28021451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545620784	chr21:28021461-28021462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2830319	chr21:28021472-28021473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73901423	chr21:28021507-28021508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7283461	chr21:28021525-28021526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7283578	chr21:28021549-28021550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs80322470	chr21:28021596-28021597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192455402	chr21:28021608-28021609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200618977	chr21:28021620-28021621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7283610	chr21:28021624-28021625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546662541	chr21:28021625-28021626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566548876	chr21:28021626-28021627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7283718	chr21:28021636-28021637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559377330	chr21:28021653-28021654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111467702	chr21:28021654-28021655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538099868	chr21:28021669-28021670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7283738	chr21:28021681-28021682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147097220	chr21:28021696-28021697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147742907	chr21:28021697-28021698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542608942	chr21:28021705-28021706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141122619	chr21:28021716-28021717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112971890	chr21:28021718-28021719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112688587	chr21:28021725-28021726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113156948	chr21:28021747-28021748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112450673	chr21:28021756-28021757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113498385	chr21:28021797-28021798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545118107	chr21:28021823-28021824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368904082	chr21:28021824-28021825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565429866	chr21:28021859-28021860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368448534	chr21:28021900-28021901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185593526	chr21:28021909-28021910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376089388	chr21:28021915-28021916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544827900	chr21:28021930-28021931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561417724	chr21:28021970-28021971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189405456	chr21:28022002-28022003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546601365	chr21:28022008-28022009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371300400	chr21:28022018-28022019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566492416	chr21:28022041-28022042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532219610	chr21:28022045-28022046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56111541	chr21:28022071-28022072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181421480	chr21:28022086-28022087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537636112	chr21:28022099-28022100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569824144	chr21:28022100-28022101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554795770	chr21:28022124-28022125	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28021400-28021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:28021600-28024400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:28024200-28025200	Enhancers	Fetal Lung	lung
4	chr21:28024400-28024600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:28024400-28024600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr21:28024400-28026000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:28024600-28031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:28025200-28025400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr21:28025200-28025800	Weak transcription	Fetal Lung	lung
10	chr21:28025800-28026400	ZNF genes & repeats	Fetal Lung	lung

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