Variant report

Variant	rs12041825
Chromosome Location	chr1:166709931-166709932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10918584	0.94[CHB][hapmap];0.92[CHD][hapmap]
rs12049207	0.83[ASN][1000 genomes]
rs477967	0.98[ASN][1000 genomes]
rs479441	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs506167	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap]
rs514704	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs526740	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs529187	0.86[ASN][1000 genomes]
rs533062	0.86[ASN][1000 genomes]
rs533094	0.86[ASN][1000 genomes]
rs540996	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs545724	0.86[ASN][1000 genomes]
rs562445	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs569129	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3386869	chr1:166708278-166710626	Enhancers Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
3	esv3420512	chr1:166708778-166710176	Enhancers Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12041825	MAEL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166709600-166710400	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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