Variant report

Variant	rs72478887
Chromosome Location	chr14:48135663-48135664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12232113	0.98[ASN][1000 genomes]
rs28385363	0.99[ASN][1000 genomes]
rs28464276	0.99[ASN][1000 genomes]
rs28700121	1.00[ASN][1000 genomes]
rs28771143	0.93[ASN][1000 genomes]
rs28785039	0.99[ASN][1000 genomes]
rs28807390	1.00[ASN][1000 genomes]
rs28837201	0.98[ASN][1000 genomes]
rs28888427	0.99[ASN][1000 genomes]
rs34564731	0.86[ASN][1000 genomes]
rs35511437	0.86[ASN][1000 genomes]
rs7158619	0.94[ASN][1000 genomes]
rs73371879	0.90[ASN][1000 genomes]
rs73371887	0.89[ASN][1000 genomes]
rs73371895	0.90[ASN][1000 genomes]
rs74091235	0.98[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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:48132000-48137600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:48132200-48140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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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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