Variant report

Variant	rs56312131
Chromosome Location	chr12:44307499-44307500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1531402	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55669442	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55821943	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913788	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55914098	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55987826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55995646	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56008731	0.88[EUR][1000 genomes]
rs56024677	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56066688	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56134007	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56168228	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57066844	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57331385	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58531015	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58824683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58938395	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60120002	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60221557	0.93[EUR][1000 genomes]
rs60306990	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467323	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60715781	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61930678	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61930689	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61930691	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61930693	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61930709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930718	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61932974	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61933009	0.88[EUR][1000 genomes]
rs71435964	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73085709	0.88[EUR][1000 genomes]
rs73085734	0.88[EUR][1000 genomes]
rs7971036	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv526719	chr12:44298417-44315762	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44298800-44307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44307000-44315600	Weak transcription	NHDF-Ad	bronchial
3	chr12:44307400-44324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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