Variant report

Variant	rs57754814
Chromosome Location	chr1:45715862-45715863
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	chr1:45478837..45482888-chr1:45715083..45718053,3	K562	blood:
2	chr1:45713616..45716854-chr1:45720214..45722890,3	K562	blood:

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11802089	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11806438	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11810239	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1226670	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1226733	0.83[EUR][1000 genomes]
rs1226734	0.83[EUR][1000 genomes]
rs1226746	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1226747	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1226748	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13374935	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1782459	0.80[EUR][1000 genomes]
rs1938296	0.82[ASN][1000 genomes]
rs1938303	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1938407	0.99[ASN][1000 genomes]
rs2105458	0.80[ASN][1000 genomes]
rs2186219	0.93[ASN][1000 genomes]
rs238249	0.80[ASN][1000 genomes]
rs2997458	0.99[ASN][1000 genomes]
rs2997461	0.80[ASN][1000 genomes]
rs3009974	0.80[ASN][1000 genomes]
rs3009979	0.80[ASN][1000 genomes]
rs3121732	0.97[ASN][1000 genomes]
rs3121769	0.96[ASN][1000 genomes]
rs3128439	0.82[ASN][1000 genomes]
rs3128440	0.82[ASN][1000 genomes]
rs34134455	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346684	0.80[ASN][1000 genomes]
rs346693	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346695	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346697	0.80[ASN][1000 genomes]
rs346698	0.80[ASN][1000 genomes]
rs346700	0.80[ASN][1000 genomes]
rs346701	0.80[ASN][1000 genomes]
rs346702	0.80[ASN][1000 genomes]
rs346705	0.80[ASN][1000 genomes]
rs346706	0.80[ASN][1000 genomes]
rs346707	0.80[ASN][1000 genomes]
rs346712	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346716	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346717	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346719	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346721	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346724	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346729	0.80[ASN][1000 genomes]
rs346732	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346733	0.80[ASN][1000 genomes]
rs346734	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs346735	0.80[ASN][1000 genomes]
rs346736	0.80[ASN][1000 genomes]
rs3850856	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs415536	0.80[ASN][1000 genomes]
rs4376776	0.91[EUR][1000 genomes]
rs454624	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4603171	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4660295	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4660839	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4660841	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55932948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56086213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363452	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56791336	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58374842	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58579477	0.89[EUR][1000 genomes]
rs58934647	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60115828	0.89[EUR][1000 genomes]
rs61003126	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61789780	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61789781	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61789815	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61789823	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61789838	0.89[EUR][1000 genomes]
rs61789841	0.84[EUR][1000 genomes]
rs72684493	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72686440	0.84[EUR][1000 genomes]
rs974143	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv998187	chr1:45677251-45732377	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45713000-45718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:45713000-45720200	Weak transcription	HepG2	liver
3	chr1:45713600-45723800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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