Variant report

Variant	rs8141108
Chromosome Location	chr22:30904212-30904213
allele	C/T
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	GATA1	chr22:30904170-30904596	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30902781..30904363-chr22:30927760..30929353,2	K562	blood:

Variant related genes	Relation type
SEC14L4	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1001409	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1008801	1.00[ASN][1000 genomes]
rs11912737	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165604	0.86[EUR][1000 genomes]
rs13053262	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13053759	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13054004	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13054381	0.81[AMR][1000 genomes]
rs13750	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16988720	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670707	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17670808	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17738527	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17738540	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1807514	0.99[EUR][1000 genomes]
rs1859479	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986969	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2023967	0.91[AMR][1000 genomes]
rs2189835	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2412989	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35102600	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35530794	1.00[ASN][1000 genomes]
rs35841307	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602314	1.00[ASN][1000 genomes]
rs60308761	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6518692	0.99[EUR][1000 genomes]
rs6518693	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518695	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518698	0.98[EUR][1000 genomes]
rs7284873	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285878	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286523	1.00[ASN][1000 genomes]
rs7286807	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7287003	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7287135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287596	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289277	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7289820	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7289828	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291870	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292573	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737940	0.97[EUR][1000 genomes]
rs737942	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136225	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136992	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137267	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8137718	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8138759	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141286	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141318	1.00[ASN][1000 genomes]
rs8141428	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141671	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs878306	0.98[EUR][1000 genomes]
rs886615	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306262	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606735	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606736	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606738	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606739	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606744	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606746	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606747	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606749	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608935	1.00[ASN][1000 genomes]
rs9608936	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608938	1.00[ASN][1000 genomes]
rs9608940	1.00[ASN][1000 genomes]
rs9608941	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608942	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608944	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608955	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608956	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9608960	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608964	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608966	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608967	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608968	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608972	0.88[AMR][1000 genomes];0.91[ASN][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
rs8141108	SEC14L4	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30903200-30904800	Enhancers	K562	blood
2	chr22:30903600-30906800	Weak transcription	HepG2	liver

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