Variant report

Variant	rs1842389
Chromosome Location	chr8:61337279-61337280
allele	A/C
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	POLR2A	chr8:61337264-61337306	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255840	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10096140	0.83[EUR][1000 genomes]
rs10098769	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10102740	0.89[EUR][1000 genomes]
rs10435601	0.87[EUR][1000 genomes]
rs10808709	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10808710	0.88[EUR][1000 genomes]
rs10957133	0.90[EUR][1000 genomes]
rs10957142	0.83[EUR][1000 genomes]
rs10957144	0.83[EUR][1000 genomes]
rs10957145	0.83[EUR][1000 genomes]
rs10957147	0.82[EUR][1000 genomes]
rs10957151	0.82[EUR][1000 genomes]
rs1120591	0.88[EUR][1000 genomes]
rs11774081	0.86[EUR][1000 genomes]
rs11776939	0.89[EUR][1000 genomes]
rs11777673	0.88[EUR][1000 genomes]
rs11777706	0.86[EUR][1000 genomes]
rs11995549	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11996592	0.82[EUR][1000 genomes]
rs12678742	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12680781	0.84[EUR][1000 genomes]
rs12681129	0.82[EUR][1000 genomes]
rs1319104	0.82[EUR][1000 genomes]
rs1319105	0.82[EUR][1000 genomes]
rs13257359	0.83[EUR][1000 genomes]
rs13262390	0.83[EUR][1000 genomes]
rs13265543	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13276831	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13439252	0.82[EUR][1000 genomes]
rs1552071	0.89[EUR][1000 genomes]
rs17814894	0.89[EUR][1000 genomes]
rs1893272	0.85[EUR][1000 genomes]
rs1941463	0.84[EUR][1000 genomes]
rs2013112	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2056415	0.81[EUR][1000 genomes]
rs2096890	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155829	0.85[EUR][1000 genomes]
rs2186986	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2272620	0.83[EUR][1000 genomes]
rs2272621	0.83[EUR][1000 genomes]
rs2326560	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2326561	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2326562	0.84[EUR][1000 genomes]
rs2326568	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2326569	0.82[EUR][1000 genomes]
rs2326570	0.82[EUR][1000 genomes]
rs2326571	0.82[EUR][1000 genomes]
rs2625441	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2625446	0.80[EUR][1000 genomes]
rs28649594	0.87[EUR][1000 genomes]
rs2875967	0.84[EUR][1000 genomes]
rs2875968	0.84[EUR][1000 genomes]
rs2875973	0.86[EUR][1000 genomes]
rs2875974	0.91[EUR][1000 genomes]
rs2930040	0.82[EUR][1000 genomes]
rs2946154	0.81[EUR][1000 genomes]
rs2981277	0.88[EUR][1000 genomes]
rs3735825	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3735826	0.82[EUR][1000 genomes]
rs3929643	0.84[EUR][1000 genomes]
rs41420549	0.82[EUR][1000 genomes]
rs4403445	0.89[EUR][1000 genomes]
rs4452821	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55825491	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56294255	0.82[EUR][1000 genomes]
rs586377	0.81[EUR][1000 genomes]
rs595255	0.82[EUR][1000 genomes]
rs600811	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs608401	0.82[EUR][1000 genomes]
rs615031	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs617834	0.82[EUR][1000 genomes]
rs625850	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629268	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs631408	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6471875	0.90[EUR][1000 genomes]
rs6471885	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6471886	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471888	0.83[EUR][1000 genomes]
rs652422	0.82[EUR][1000 genomes]
rs659118	0.83[EUR][1000 genomes]
rs669599	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67420552	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs684066	0.82[EUR][1000 genomes]
rs687978	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984378	0.89[EUR][1000 genomes]
rs6987084	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6992869	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6993019	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6995041	0.87[EUR][1000 genomes]
rs6995515	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7000166	0.82[EUR][1000 genomes]
rs7001696	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7007434	0.89[EUR][1000 genomes]
rs7012181	0.82[EUR][1000 genomes]
rs7013249	0.82[EUR][1000 genomes]
rs7413	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815543	0.83[EUR][1000 genomes]
rs7822169	0.91[EUR][1000 genomes]
rs7824045	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7825612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827453	0.91[EUR][1000 genomes]
rs7829359	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7830710	0.89[EUR][1000 genomes]
rs7834395	0.90[EUR][1000 genomes]
rs7839474	0.83[EUR][1000 genomes]
rs7839516	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7842586	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9298039	0.82[EUR][1000 genomes]
rs948422	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643523	0.91[EUR][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	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1842389	RAB2A	cis	multi-tissue	Pritchard
rs1842389	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs1842389	RAB2A	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61336400-61338000	Enhancers	Placenta	Placenta

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