Variant report

Variant	rs12143442
Chromosome Location	chr1:166668384-166668385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10158106	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes]
rs12132853	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12134571	1.00[CEU][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes]
rs12141571	0.86[EUR][1000 genomes]
rs12141694	0.80[EUR][1000 genomes]
rs12142284	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12142352	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1337137	0.81[YRI][hapmap]
rs1591493	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17402328	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17432260	1.00[CEU][hapmap]
rs61814974	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs714339	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.83[EUR][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	esv2752389	chr1:166625342-166706342	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv947550	chr1:166647096-166673303	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12143442	MAEL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166667600-166669600	Enhancers	K562	blood
2	chr1:166667800-166668800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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

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