Variant report

Variant	rs7824045
Chromosome Location	chr8:61398085-61398086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:61398084-61398330	HepG2	liver:	n/a	n/a
2	JUND	chr8:61398084-61398391	HepG2	liver:	n/a	chr8:61398231-61398240 chr8:61398261-61398273

Variant related genes	Relation type
RNU6-1202P	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10096140	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10098769	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10102740	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10435601	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808709	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808710	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957133	0.82[EUR][1000 genomes]
rs10957142	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957144	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957145	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10957147	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957150	1.00[CEU][hapmap]
rs10957151	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1120591	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774081	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776939	0.82[EUR][1000 genomes]
rs11777673	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777706	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11995549	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996592	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12678742	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12680781	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12681129	0.92[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1319104	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1319105	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13257359	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13262390	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13265543	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13276831	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13439252	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1552071	0.81[EUR][1000 genomes]
rs17814894	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs1842389	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1893272	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1941463	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2056415	0.93[CEU][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2096890	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2155829	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2186986	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272620	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272621	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326560	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326561	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326562	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326568	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326569	0.93[CEU][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326570	0.93[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326571	0.92[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2625441	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2625446	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28649594	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2875967	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2875968	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2875973	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2875974	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930040	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2946154	0.93[CEU][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2981277	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3735825	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3735826	0.92[CEU][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3929643	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41420549	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4403445	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4452821	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55825491	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56294255	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs586377	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs595255	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs600811	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs603035	1.00[CEU][hapmap]
rs608401	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs615031	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs617834	0.93[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs625850	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs629268	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs631408	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471875	0.82[EUR][1000 genomes]
rs6471885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471886	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471888	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs652422	0.92[CEU][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659118	0.91[EUR][1000 genomes]
rs660865	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs669599	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67420552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684066	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687978	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6984378	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6987084	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6992869	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6993019	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6995041	1.00[CEU][hapmap]
rs6995515	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7000166	0.93[CEU][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7001696	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7007434	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012181	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013249	0.92[CEU][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7413	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7815543	0.93[CEU][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822169	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825612	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7827453	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7829359	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830710	0.82[EUR][1000 genomes]
rs7834395	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839474	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839516	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7842586	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298039	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs948422	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9643523	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7824045	RAB2A	cis	multi-tissue	Pritchard
rs7824045	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs7824045	RAB2	cis	uninvolved skin	skin_eQTL
rs7824045	RP11-163N6.2	cis	Thyroid	GTEx
rs7824045	RAB2	cis	lesional skin	skin_eQTL
rs7824045	RAB2	cis	normal skin	skin_eQTL
rs7824045	RAB2A	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61396600-61399200	Weak transcription	Psoas Muscle	Psoas
2	chr8:61398000-61398200	Enhancers	A549	lung

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