Variant report

Variant	esv20165
Chromosome Location	chr21:28227783-28234286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573084487	chr21:28227788-28227789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545315170	chr21:28227826-28227827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2830557	chr21:28227827-28227828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537303538	chr21:28227861-28227862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533344155	chr21:28227865-28227866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386817546	chr21:28227866-28227867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9978507	chr21:28227868-28227869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529320686	chr21:28227898-28227899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368946704	chr21:28227904-28227905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2830558	chr21:28227905-28227906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549191588	chr21:28227916-28227917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559445387	chr21:28227954-28227955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528707158	chr21:28227963-28227964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551635157	chr21:28228046-28228047	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189100478	chr21:28228049-28228050	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375177543	chr21:28228055-28228056	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs9978691	chr21:28228075-28228076	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556657225	chr21:28228094-28228095	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143541378	chr21:28228129-28228130	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535927890	chr21:28228136-28228137	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553075608	chr21:28228145-28228146	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542067418	chr21:28228153-28228154	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs202202955	chr21:28228213-28228214	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs420359	chr21:28228225-28228226	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs573074283	chr21:28228226-28228227	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs374825183	chr21:28228232-28228233	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs200611292	chr21:28228250-28228251	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs381014	chr21:28228275-28228276	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs144148002	chr21:28228282-28228283	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs373384362	chr21:28228308-28228309	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs374499348	chr21:28228310-28228311	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs71317488	chr21:28228312-28228313	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs558877713	chr21:28228314-28228315	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs420603	chr21:28228325-28228326	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs575579683	chr21:28228331-28228332	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs202097322	chr21:28228332-28228333	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs428395	chr21:28228352-28228353	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs544496908	chr21:28228355-28228356	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs563491459	chr21:28228359-28228360	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs529326881	chr21:28228361-28228362	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs111512412	chr21:28228363-28228364	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs34245890	chr21:28228364-28228365	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs71183581	chr21:28228365-28228366	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs563942301	chr21:28228404-28228405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113560129	chr21:28228424-28228425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377637733	chr21:28228444-28228445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77796586	chr21:28228446-28228447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559449246	chr21:28228449-28228450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76327873	chr21:28228457-28228458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200464890	chr21:28228491-28228492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28219400-28229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:28224000-28228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:28225200-28228000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:28225400-28229000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr21:28225600-28228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr21:28225600-28228400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:28225600-28228400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:28225800-28228600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:28226000-28229200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:28228000-28228200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr21:28228000-28228200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr21:28228000-28228400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:28228000-28229200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr21:28228200-28228400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
15	chr21:28228400-28229200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr21:28228400-28229200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr21:28228400-28229200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:28228600-28229200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr21:28229000-28229200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr21:28229000-28229400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr21:28229000-28229400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:28229200-28229400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:28229200-28229400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:28233600-28233800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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