Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11908996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910396	1.00[AMR][1000 genomes]
rs11910835	1.00[AMR][1000 genomes]
rs11911965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16980399	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16997563	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16997565	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4306780	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58245320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61137573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275570	0.94[AFR][1000 genomes]
rs7280599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7280962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7281874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133867	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1061112	chr21:28738028-28775601	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28742200-28763600	Weak transcription	Left Ventricle	heart
2	chr21:28751000-28755200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:28751800-28753200	Enhancers	Adipose Nuclei	Adipose
4	chr21:28751800-28753200	Enhancers	HSMM	muscle
5	chr21:28751800-28753200	Enhancers	NHDF-Ad	bronchial
6	chr21:28752200-28754800	Weak transcription	Psoas Muscle	Psoas
7	chr21:28752400-28753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:28752800-28753200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:28753000-28753200	Enhancers	HSMMtube	muscle
10	chr21:28753000-28765400	Weak transcription	Ovary	ovary

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