Variant report

Variant	rs6721312
Chromosome Location	chr2:67162304-67162305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10174577	0.93[ASN][1000 genomes]
rs10175701	0.84[ASN][1000 genomes]
rs10180582	0.84[ASN][1000 genomes]
rs10210389	0.93[ASN][1000 genomes]
rs10496138	0.98[ASN][1000 genomes]
rs13409540	0.91[ASN][1000 genomes]
rs1362484	0.84[ASN][1000 genomes]
rs17587626	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36122997	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3732047	0.91[EUR][1000 genomes]
rs58683753	0.91[ASN][1000 genomes]
rs6726820	0.96[ASN][1000 genomes]
rs6731610	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67764531	0.98[ASN][1000 genomes]
rs7419773	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591850	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs868373	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][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	esv2762259	chr2:67109728-67165987	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6721312	APLF	cis	parietal	SCAN
rs6721312	MEIS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67158200-67164000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:67162200-67163200	Enhancers	Fetal Lung	lung

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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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