Variant report

Variant	rs4816539
Chromosome Location	chr21:37895398-37895399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37894158..37897213-chr21:37901211..37904346,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11088353	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11088354	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2000547	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2070518	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187302	0.89[ASN][1000 genomes]
rs2187303	0.86[ASN][1000 genomes]
rs367166	0.88[JPT][hapmap]
rs397996	0.89[JPT][hapmap]
rs398591	0.88[JPT][hapmap]
rs399711	0.89[JPT][hapmap]
rs400019	0.89[JPT][hapmap]
rs400267	0.94[JPT][hapmap]
rs400544	0.89[JPT][hapmap]
rs412775	0.89[JPT][hapmap]
rs413616	0.89[JPT][hapmap]
rs420925	0.89[JPT][hapmap]
rs425864	0.86[JPT][hapmap]
rs431530	0.89[JPT][hapmap]
rs439888	0.87[JPT][hapmap]
rs443968	0.88[JPT][hapmap]
rs445103	0.89[JPT][hapmap]
rs448332	0.89[JPT][hapmap]
rs448482	0.89[JPT][hapmap]
rs448659	0.87[JPT][hapmap]
rs448687	0.89[JPT][hapmap]
rs448849	0.89[JPT][hapmap]
rs451243	0.89[JPT][hapmap]
rs6517354	0.81[TSI][hapmap]
rs6517359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7281531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282508	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7510508	0.81[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs9976609	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9979731	0.81[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4816539	CBR3	cis	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37893400-37897200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:37893800-37897800	Enhancers	Fetal Muscle Leg	muscle
3	chr21:37894600-37895400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:37894800-37898800	Weak transcription	Right Atrium	heart
5	chr21:37895000-37895400	Enhancers	Fetal Kidney	kidney
6	chr21:37895200-37895400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr21:37895200-37895400	ZNF genes & repeats	GM12878-XiMat	blood

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