Variant report

Variant	rs4518518
Chromosome Location	chr6:134179260-134179261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1001331	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11751744	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757968	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208227	1.00[ASN][1000 genomes]
rs1208228	1.00[ASN][1000 genomes]
rs1208234	1.00[ASN][1000 genomes]
rs1208235	1.00[ASN][1000 genomes]
rs1208237	1.00[ASN][1000 genomes]
rs1208239	1.00[ASN][1000 genomes]
rs1208242	1.00[ASN][1000 genomes]
rs1208244	1.00[ASN][1000 genomes]
rs1208246	1.00[ASN][1000 genomes]
rs1208247	1.00[ASN][1000 genomes]
rs1208251	1.00[ASN][1000 genomes]
rs1208252	1.00[ASN][1000 genomes]
rs1208253	1.00[ASN][1000 genomes]
rs1208260	1.00[ASN][1000 genomes]
rs1208265	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208267	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208268	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208279	0.94[CEU][hapmap]
rs1208282	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535615	0.87[EUR][1000 genomes]
rs1575446	1.00[ASN][1000 genomes]
rs1613895	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616030	1.00[ASN][1000 genomes]
rs1746011	1.00[ASN][1000 genomes]
rs1746012	1.00[ASN][1000 genomes]
rs1746015	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746016	0.89[EUR][1000 genomes]
rs17481786	1.00[ASN][1000 genomes]
rs1763937	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1763938	0.89[EUR][1000 genomes]
rs1763941	1.00[ASN][1000 genomes]
rs1763944	1.00[ASN][1000 genomes]
rs1763945	1.00[ASN][1000 genomes]
rs2104261	1.00[ASN][1000 genomes]
rs229931	0.88[GIH][hapmap];0.89[TSI][hapmap]
rs41286216	1.00[ASN][1000 genomes]
rs41286218	1.00[ASN][1000 genomes]
rs4610586	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899948	0.87[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900251	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915061	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919282	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920657	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716050	1.00[ASN][1000 genomes]
rs7748433	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9321418	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321419	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942130	1.00[ASN][1000 genomes]
rs942132	1.00[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	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4518518	AKAP7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134178800-134181800	Weak transcription	Fetal Lung	lung

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