Variant report

Variant	rs73233100
Chromosome Location	chr21:46091582-46091583
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr21:46091510-46092185	K562	blood:	n/a	n/a

Variant related genes	Relation type
KRTAP12-2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12329668	0.87[EUR][1000 genomes]
rs17211921	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17284014	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17284056	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17284167	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2329891	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4401291	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55805293	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55830574	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55877354	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55962178	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56008135	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56019874	0.87[EUR][1000 genomes]
rs56138130	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56277017	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56310126	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58403526	0.85[EUR][1000 genomes]
rs59742230	0.87[EUR][1000 genomes]
rs73233077	0.85[EUR][1000 genomes]
rs73233084	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73233088	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73233095	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73233102	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234804	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234823	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73234825	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73234826	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234827	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234828	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234830	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234831	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234832	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234833	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234834	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73234835	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9978068	0.87[EUR][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	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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