Variant report

Variant	rs28544020
Chromosome Location	chr21:28455007-28455008
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28449732..28451857-chr21:28452054..28455156,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10084599	0.94[ASN][1000 genomes]
rs10222074	0.82[ASN][1000 genomes]
rs1023405	0.91[EUR][1000 genomes]
rs12329903	0.82[ASN][1000 genomes]
rs12627643	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12710375	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13433452	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1888429	0.92[ASN][1000 genomes]
rs2088379	0.82[ASN][1000 genomes]
rs2212899	0.91[ASN][1000 genomes]
rs233589	0.82[ASN][1000 genomes]
rs233591	0.82[ASN][1000 genomes]
rs233592	0.82[ASN][1000 genomes]
rs233596	0.82[ASN][1000 genomes]
rs2830657	0.88[ASN][1000 genomes]
rs2830661	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2830667	0.94[ASN][1000 genomes]
rs2830669	0.95[ASN][1000 genomes]
rs2830670	0.94[ASN][1000 genomes]
rs2898105	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7276086	0.92[ASN][1000 genomes]
rs73187896	0.91[ASN][1000 genomes]
rs73187897	0.94[ASN][1000 genomes]
rs8127039	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs884845	0.88[ASN][1000 genomes]
rs9305300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9647125	0.92[ASN][1000 genomes]
rs9647126	0.92[ASN][1000 genomes]
rs9647127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9974419	0.82[ASN][1000 genomes]
rs9977437	0.82[ASN][1000 genomes]
rs9981850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9982753	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9984716	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
6	nsv1063321	chr21:28443774-28460820	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	esv3455358	chr21:28450747-28459949	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	esv3455357	chr21:28450947-28459840	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
9	esv3455359	chr21:28450961-28459838	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
10	esv2763687	chr21:28451370-28459911	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
11	esv2760707	chr21:28451370-28460775	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28447400-28467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28454200-28455200	Enhancers	Brain Substantia Nigra	brain
3	chr21:28454400-28455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr21:28454800-28455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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