Variant report

Variant	esv3354445
Chromosome Location	chr21:28423706-28426254
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: 132 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187869080	chr21:28423706-28423707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548151057	chr21:28423715-28423716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76379501	chr21:28423716-28423717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532971884	chr21:28423773-28423774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs404112	chr21:28423821-28423822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs569751036	chr21:28423837-28423838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141587500	chr21:28423847-28423848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377312516	chr21:28423868-28423869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191858036	chr21:28423894-28423895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146212351	chr21:28423911-28423912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534504419	chr21:28423912-28423913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138071782	chr21:28423941-28423942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116248116	chr21:28423942-28423943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556256045	chr21:28424025-28424026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117456538	chr21:28424028-28424029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117359963	chr21:28424052-28424053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551437704	chr21:28424061-28424062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555889760	chr21:28424118-28424119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572726056	chr21:28424120-28424121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541616730	chr21:28424147-28424148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564835701	chr21:28424150-28424151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533428093	chr21:28424179-28424180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539197849	chr21:28424187-28424188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184005339	chr21:28424243-28424244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188014787	chr21:28424283-28424284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528966805	chr21:28424288-28424289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149506370	chr21:28424297-28424298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138434165	chr21:28424350-28424351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373396235	chr21:28424442-28424443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113761240	chr21:28424443-28424444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528302025	chr21:28424466-28424467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148683736	chr21:28424487-28424488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534151195	chr21:28424488-28424489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571539540	chr21:28424490-28424491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576094117	chr21:28424502-28424503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115186531	chr21:28424507-28424508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556529389	chr21:28424579-28424580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576744944	chr21:28424581-28424582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570106453	chr21:28424602-28424603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140789440	chr21:28424609-28424610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67130669	chr21:28424610-28424611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535848683	chr21:28424622-28424623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398121559	chr21:28424623-28424624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201362917	chr21:28424624-28424625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202123641	chr21:28424632-28424633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13049411	chr21:28424649-28424650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13050056	chr21:28424656-28424657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9976550	chr21:28424664-28424665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72125518	chr21:28424677-28424678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28668780	chr21:28424678-28424679	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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