Variant report

Variant	rs56298324
Chromosome Location	chr3:48435090-48435091
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48433970..48436088-chr3:48448312..48450443,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1037773	0.82[EUR][1000 genomes]
rs10470686	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1109227	0.81[EUR][1000 genomes]
rs11130170	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130171	0.82[EUR][1000 genomes]
rs11712561	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12487542	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13069724	0.81[EUR][1000 genomes]
rs13071337	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13072012	0.84[AFR][1000 genomes]
rs13076076	0.82[EUR][1000 genomes]
rs13314659	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1459242	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1459249	0.81[EUR][1000 genomes]
rs1563736	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1975844	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2045554	0.88[AFR][1000 genomes]
rs2279077	0.82[EUR][1000 genomes]
rs2290822	0.82[EUR][1000 genomes]
rs2362450	0.83[EUR][1000 genomes]
rs2362452	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28824259	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2885509	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2885510	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3214041	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34761139	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3774808	0.82[EUR][1000 genomes]
rs4858793	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4858817	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4858819	0.82[ASN][1000 genomes]
rs60512868	0.81[EUR][1000 genomes]
rs6442116	0.85[ASN][1000 genomes]
rs6442117	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442118	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442119	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442120	0.82[EUR][1000 genomes]
rs6764415	0.81[EUR][1000 genomes]
rs6770470	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6779262	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6784322	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6784541	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6794875	0.83[EUR][1000 genomes]
rs6796491	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6804774	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6810060	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs725309	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs725310	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs730566	0.84[ASN][1000 genomes]
rs73074358	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7630741	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7634377	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7635522	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7636782	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7653691	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs898225	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs922075	0.88[AFR][1000 genomes]
rs9311423	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9311424	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9809843	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9812647	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9815103	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9826195	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9849509	0.81[EUR][1000 genomes]
rs9862575	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9864371	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9864815	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9875280	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9876891	0.82[EUR][1000 genomes]
rs9883759	0.82[EUR][1000 genomes]
rs9883927	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs56298324	RP11-24C3.2	cis	Muscle Skeletal	GTEx
rs56298324	TMA7	cis	Muscle Skeletal	GTEx
rs56298324	ZNF589	cis	brain	BrainEAC
rs56298324	TREX1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48415200-48439400	Weak transcription	Pancreas	Pancrea

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