Variant report

Variant	rs72687639
Chromosome Location	chr14:47940130-47940131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483568	0.94[EUR][1000 genomes]
rs12433991	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12436176	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17118453	0.81[EUR][1000 genomes]
rs17684860	0.94[EUR][1000 genomes]
rs17742627	0.81[EUR][1000 genomes]
rs17745673	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17746124	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55862063	0.87[ASN][1000 genomes]
rs72670711	0.94[EUR][1000 genomes]
rs72670747	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685862	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72685878	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498118	chr14:47754197-48274409	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47938200-47943800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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