Variant report

Variant	rs72760147
Chromosome Location	chr5:54147555-54147556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs72760125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760134	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760137	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760146	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760150	1.00[AFR][1000 genomes]
rs72760157	1.00[AFR][1000 genomes]
rs72762213	1.00[AFR][1000 genomes]
rs72762218	1.00[AFR][1000 genomes]
rs72762245	1.00[AFR][1000 genomes]
rs73755284	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7449307	1.00[AFR][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	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54147200-54147600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:54147200-54147800	Enhancers	HMEC	breast

Quick Search:

Input of quick search could be:

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

what's new

Quick links