Variant report

Variant	rs6992869
Chromosome Location	chr8:61395832-61395833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61390369..61392056-chr8:61395444..61397450,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10096140	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10098769	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10102740	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10435601	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808709	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10808710	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957142	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957144	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957145	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957147	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957151	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1120591	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11774081	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11776939	0.85[EUR][1000 genomes]
rs11777673	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777706	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11995549	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11996592	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12678742	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12680781	0.86[EUR][1000 genomes]
rs12681129	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1319104	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1319105	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13257359	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13262390	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13265543	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13276831	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13439252	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1552071	0.85[EUR][1000 genomes]
rs17814894	0.85[EUR][1000 genomes]
rs1842389	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1893272	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1941463	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013112	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2056415	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2096890	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155829	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2186986	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272620	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272621	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326560	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2326561	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2326562	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326568	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2326569	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2326570	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326571	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2625441	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2625446	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28649594	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2875967	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2875968	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2875973	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2875974	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930040	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2946154	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2981277	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735825	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3735826	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3929643	0.87[EUR][1000 genomes]
rs41420549	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4403445	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4452821	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55825491	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56294255	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs586377	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs595255	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs600811	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs608401	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs615031	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs617834	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs625850	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629268	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs631408	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471885	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471886	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471888	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs652422	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659118	0.85[EUR][1000 genomes]
rs660865	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs669599	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67420552	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs684066	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687978	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984378	0.85[EUR][1000 genomes]
rs6987084	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6993019	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6995515	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7000166	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7001696	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7007434	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012181	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013249	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7413	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815543	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822169	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7824045	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825612	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7827453	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7829359	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7830710	0.85[EUR][1000 genomes]
rs7834395	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839474	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839516	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7842586	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9298039	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs948422	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9643523	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6992869	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs6992869	RP11-163N6.2	cis	Thyroid	GTEx
rs6992869	RAB2A	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61391200-61396000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:61395400-61396000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr8:61395600-61396000	Enhancers	Primary monocytes fromperipheralblood	blood

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