Variant report

Variant	rs2572030
Chromosome Location	chr15:55399508-55399509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10444800	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10444801	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11071165	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11071166	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11071168	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12911537	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2437110	0.87[EUR][1000 genomes]
rs2572029	0.87[EUR][1000 genomes]
rs2572034	0.83[EUR][1000 genomes]
rs2641583	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28797222	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375602	0.88[EUR][1000 genomes]
rs4774202	0.96[ASN][1000 genomes]
rs486913	0.87[EUR][1000 genomes]
rs489055	0.84[EUR][1000 genomes]
rs489105	0.83[EUR][1000 genomes]
rs491004	0.84[EUR][1000 genomes]
rs505918	0.80[EUR][1000 genomes]
rs508482	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs549231	0.84[EUR][1000 genomes]
rs551093	0.84[EUR][1000 genomes]
rs559069	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62018202	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7178925	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2572030	RAB27A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55394600-55400400	Weak transcription	Brain Germinal Matrix	brain
2	chr15:55399000-55400400	Weak transcription	K562	blood
3	chr15:55399400-55400400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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