Variant report

Variant	rs162520
Chromosome Location	chr21:28282684-28282685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1497288	1.00[ASN][1000 genomes]
rs151056	0.87[EUR][1000 genomes]
rs151059	0.81[EUR][1000 genomes]
rs162488	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162490	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162491	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162492	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162493	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162494	0.81[EUR][1000 genomes]
rs162496	0.87[EUR][1000 genomes]
rs162497	0.87[EUR][1000 genomes]
rs162498	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162499	0.87[EUR][1000 genomes]
rs162501	1.00[ASN][1000 genomes]
rs162503	1.00[ASN][1000 genomes]
rs162504	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162505	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162507	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162508	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162510	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162516	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162531	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162532	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs162533	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162534	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162535	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162536	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162537	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162538	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162539	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162540	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162541	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229045	0.87[EUR][1000 genomes]
rs229046	0.87[EUR][1000 genomes]
rs229049	0.81[EUR][1000 genomes]
rs229050	0.81[EUR][1000 genomes]
rs229060	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229061	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229063	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229064	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229069	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229071	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229076	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229078	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229079	0.91[EUR][1000 genomes]
rs229085	1.00[ASN][1000 genomes]
rs229087	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229088	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229089	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs229090	0.88[EUR][1000 genomes]
rs229091	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs229093	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229095	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229097	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229103	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229109	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229110	0.87[EUR][1000 genomes]
rs233897	0.81[EUR][1000 genomes]
rs233898	0.81[EUR][1000 genomes]
rs233899	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233900	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830556	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830584	0.88[EUR][1000 genomes]
rs2830589	0.81[EUR][1000 genomes]
rs389125	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs431134	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs457947	1.00[ASN][1000 genomes]
rs4817147	1.00[ASN][1000 genomes]
rs7281968	0.88[EUR][1000 genomes]
rs73358063	1.00[ASN][1000 genomes]
rs73358075	1.00[ASN][1000 genomes]
rs73899348	1.00[ASN][1000 genomes]
rs8127064	1.00[ASN][1000 genomes]
rs8131204	1.00[ASN][1000 genomes]
rs8992	1.00[ASN][1000 genomes]
rs9647124	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv275324	chr21:28280501-28284521	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	n/a
6	nsv1063371	chr21:28282660-28294991	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
7	nsv1065825	chr21:28282660-28296389	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
8	nsv1067026	chr21:28282660-28298049	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28276400-28284400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:28281400-28283200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr21:28281800-28283000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr21:28282000-28283000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr21:28282000-28283000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr21:28282000-28283400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr21:28282000-28283600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr21:28282000-28284000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr21:28282200-28283000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:28282200-28283600	Enhancers	HSMM	muscle
11	chr21:28282400-28283400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:28282400-28283600	Enhancers	HSMMtube	muscle
13	chr21:28282400-28295000	Weak transcription	Fetal Kidney	kidney
14	chr21:28282600-28282800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr21:28282600-28283200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:28282600-28283400	Weak transcription	NHDF-Ad	bronchial
17	chr21:28282600-28285800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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