Variant report

Variant	rs508482
Chromosome Location	chr15:55410507-55410508
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10444800	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10444801	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10518801	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11071165	0.89[ASW][hapmap];0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11071166	0.83[EUR][1000 genomes]
rs11071168	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11071172	0.89[EUR][1000 genomes]
rs11071173	0.89[EUR][1000 genomes]
rs12911537	0.83[EUR][1000 genomes]
rs2572030	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2572034	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2641583	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28797222	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4774750	0.87[EUR][1000 genomes]
rs486913	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs559069	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs559343	0.94[ASN][1000 genomes]
rs62018202	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493748	0.95[ASN][1000 genomes]
rs6493767	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs692886	0.95[ASN][1000 genomes]
rs7168057	0.87[EUR][1000 genomes]
rs7169407	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7172575	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv457156	chr15:55400649-55466155	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv569521	chr15:55400649-55466155	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs508482	RAB27A	cis	lymphoblastoid	seeQTL
rs508482	RSL24D1	cis	cerebellum	SCAN
rs508482	RAB27A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55405200-55416800	Weak transcription	Fetal Lung	lung
2	chr15:55409200-55410600	Weak transcription	Fetal Kidney	kidney
3	chr15:55410400-55410800	Enhancers	Duodenum Smooth Muscle	Duodenum

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