Variant report

Variant	nsv964548
Chromosome Location	chr21:28265715-28275143
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-18	chr21:28272099-28272312	NONHSAT081550

Extended variants
information (count: 128 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539674117	chr21:28265822-28265823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148095228	chr21:28265833-28265834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141885580	chr21:28265843-28265844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184061991	chr21:28265864-28265865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547834722	chr21:28265877-28265878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557969547	chr21:28265975-28265976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568167822	chr21:28265995-28265996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540485205	chr21:28271917-28271918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs162545	chr21:28271978-28271979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530095328	chr21:28271997-28271998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181629915	chr21:28272006-28272007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533001900	chr21:28272055-28272056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555809077	chr21:28272070-28272071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186273186	chr21:28272073-28272074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188590726	chr21:28272081-28272082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548069967	chr21:28272144-28272145	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs144060187	chr21:28272227-28272228	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs551390075	chr21:28272274-28272275	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs60216130	chr21:28272283-28272284	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs162544	chr21:28272317-28272318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570775596	chr21:28272332-28272333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs162543	chr21:28272342-28272343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115738636	chr21:28272351-28272352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550344521	chr21:28272359-28272360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538376978	chr21:28272364-28272365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371016900	chr21:28272373-28272374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111541416	chr21:28272470-28272471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185942545	chr21:28272533-28272534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190856827	chr21:28272575-28272576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2830576	chr21:28272603-28272604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554012608	chr21:28272621-28272622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577154835	chr21:28272631-28272632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74970899	chr21:28272652-28272653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562542225	chr21:28272688-28272689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374884696	chr21:28272704-28272705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367843839	chr21:28272724-28272725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11909535	chr21:28272830-28272831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114652847	chr21:28272834-28272835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2120633	chr21:28272858-28272859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57572860	chr21:28272863-28272864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2120634	chr21:28272910-28272911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151063	chr21:28272929-28272930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148675712	chr21:28272950-28272951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570736731	chr21:28272960-28272961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182201036	chr21:28272964-28272965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538676189	chr21:28272973-28272974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556921494	chr21:28272983-28272984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148717616	chr21:28272984-28272985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186280082	chr21:28272992-28272993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201156885	chr21:28273046-28273047	Enhancers	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28265800-28266000	Enhancers	Left Ventricle	heart
2	chr21:28271800-28272400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28272200-28272400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:28272400-28273000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:28273000-28274600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:28273200-28273600	Enhancers	Pancreas	Pancrea
7	chr21:28273800-28276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:28274600-28275000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:28274800-28275000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr21:28274800-28276400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr21:28274800-28276600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr21:28275000-28276000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr21:28275000-28276400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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