Variant report

Variant	rs2731072
Chromosome Location	chr12:48917425-48917426
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10875832	0.89[EUR][1000 genomes]
rs11168572	0.84[EUR][1000 genomes]
rs12318285	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]
rs17123109	0.87[CHB][hapmap]
rs17123138	0.82[CHB][hapmap]
rs2464566	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2468349	0.88[EUR][1000 genomes]
rs2705157	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2705165	0.91[EUR][1000 genomes]
rs2712611	0.93[EUR][1000 genomes]
rs2731074	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs56053566	0.89[ASN][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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv1803653	chr12:48905575-48923774	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2731072	LALBA	cis	cerebellum	SCAN
rs2731072	LMBR1L	cis	cerebellum	SCAN

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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