Variant report

Variant	rs13053759
Chromosome Location	chr22:30909038-30909039
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	chr22:30906993..30909808-chr22:30916517..30918667,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1001409	0.91[AMR][1000 genomes]
rs11912737	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13053262	0.83[AMR][1000 genomes]
rs13054004	0.91[AMR][1000 genomes]
rs13054381	0.80[AMR][1000 genomes]
rs13750	0.83[AMR][1000 genomes]
rs16988720	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17670707	0.81[AMR][1000 genomes]
rs17670808	0.81[AMR][1000 genomes]
rs17738527	0.83[AMR][1000 genomes]
rs17738540	0.81[AMR][1000 genomes]
rs1807514	0.88[EUR][1000 genomes]
rs1859479	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1986969	0.84[AMR][1000 genomes]
rs2023967	0.90[AMR][1000 genomes]
rs2189835	0.81[AMR][1000 genomes]
rs2412989	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2412990	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35102600	0.86[AMR][1000 genomes]
rs35841307	0.87[AMR][1000 genomes]
rs60308761	0.84[AMR][1000 genomes]
rs6518692	0.88[EUR][1000 genomes]
rs6518693	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6518695	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6518698	0.87[EUR][1000 genomes]
rs7284873	0.90[AMR][1000 genomes]
rs7285878	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7286807	0.84[AMR][1000 genomes]
rs7287003	0.83[AMR][1000 genomes]
rs7287135	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7287596	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7289277	0.81[AMR][1000 genomes]
rs7289820	0.81[AMR][1000 genomes]
rs7289828	0.91[AMR][1000 genomes]
rs7291870	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7292573	0.89[AMR][1000 genomes]
rs737940	0.86[EUR][1000 genomes]
rs737942	0.81[AMR][1000 genomes]
rs8136225	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8136992	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8137267	0.81[AMR][1000 genomes]
rs8137718	0.81[AMR][1000 genomes]
rs8138759	0.81[AMR][1000 genomes]
rs8141108	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8141286	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8141428	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8141671	0.83[AMR][1000 genomes]
rs878306	0.87[EUR][1000 genomes]
rs886615	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs886616	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs886617	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9306262	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9606735	0.81[AMR][1000 genomes]
rs9606736	0.81[AMR][1000 genomes]
rs9606738	0.81[AMR][1000 genomes]
rs9606739	0.81[AMR][1000 genomes]
rs9606744	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9606745	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9606746	0.90[AMR][1000 genomes]
rs9606747	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9606749	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9608936	0.83[AMR][1000 genomes]
rs9608942	0.81[AMR][1000 genomes]
rs9608944	0.83[AMR][1000 genomes]
rs9608955	0.90[AMR][1000 genomes]
rs9608956	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9608960	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9608964	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9608966	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9608967	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9608968	0.90[AMR][1000 genomes]
rs9608972	0.87[AMR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv3413089	chr22:30888110-30921604	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13053759	SEC14L4	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30907600-30910000	Weak transcription	HepG2	liver

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