Variant report

Variant	rs11810239
Chromosome Location	chr1:45701905-45701906
allele	G/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	KAP1	chr1:45701828-45702191	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000221707	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11211074	0.95[ASN][1000 genomes]
rs1144868	0.97[ASN][1000 genomes]
rs11802089	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11806438	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226670	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226733	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1226734	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1226735	0.82[ASN][1000 genomes]
rs1226746	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226747	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226748	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1226836	0.84[ASN][1000 genomes]
rs1226914	0.95[ASN][1000 genomes]
rs13374935	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1782459	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1938300	0.97[ASN][1000 genomes]
rs1938301	0.97[ASN][1000 genomes]
rs1938303	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1938304	0.97[ASN][1000 genomes]
rs1938407	0.81[ASN][1000 genomes]
rs2088956	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2105458	0.98[ASN][1000 genomes]
rs2356302	0.97[ASN][1000 genomes]
rs238249	0.98[ASN][1000 genomes]
rs2997458	0.81[ASN][1000 genomes]
rs2997461	0.98[ASN][1000 genomes]
rs2997465	0.97[ASN][1000 genomes]
rs3009968	0.97[ASN][1000 genomes]
rs3009969	0.97[ASN][1000 genomes]
rs3009974	0.98[ASN][1000 genomes]
rs3009979	0.98[ASN][1000 genomes]
rs34134455	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346684	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346687	0.97[ASN][1000 genomes]
rs346693	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346695	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346696	0.97[ASN][1000 genomes]
rs346697	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346698	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346700	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346701	0.98[ASN][1000 genomes]
rs346702	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346705	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346706	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346707	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346708	0.91[ASN][1000 genomes]
rs346712	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346716	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346717	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346719	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346721	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346723	0.97[ASN][1000 genomes]
rs346724	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346729	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346731	0.95[ASN][1000 genomes]
rs346732	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346733	0.98[ASN][1000 genomes]
rs346734	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346735	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346736	0.98[ASN][1000 genomes]
rs346737	0.97[ASN][1000 genomes]
rs3738246	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3850855	0.97[ASN][1000 genomes]
rs3850856	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs415536	0.98[ASN][1000 genomes]
rs4376776	0.88[EUR][1000 genomes]
rs4454584	0.80[ASN][1000 genomes]
rs454624	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4603171	0.88[EUR][1000 genomes]
rs4660295	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4660834	0.97[ASN][1000 genomes]
rs4660839	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4660841	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55932948	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56086213	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56363452	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56791336	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57754814	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58374842	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58579477	0.86[EUR][1000 genomes]
rs58934647	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59220391	0.89[ASN][1000 genomes]
rs60115828	0.86[EUR][1000 genomes]
rs61003126	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61789780	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61789781	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61789815	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61789823	0.87[EUR][1000 genomes]
rs61789838	0.86[EUR][1000 genomes]
rs61789841	0.81[EUR][1000 genomes]
rs6429557	0.97[ASN][1000 genomes]
rs6688318	0.97[ASN][1000 genomes]
rs6702327	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72684493	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72686440	0.81[EUR][1000 genomes]
rs974143	0.85[EUR][1000 genomes];0.98[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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45701800-45702400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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