Variant report

Variant	rs72725780
Chromosome Location	chr14:70294924-70294925
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	chr14:70294846..70296359-chr14:70304278..70306055,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10130926	0.84[EUR][1000 genomes]
rs10136397	0.87[EUR][1000 genomes]
rs10146537	0.86[EUR][1000 genomes]
rs10148404	0.87[EUR][1000 genomes]
rs11620808	0.87[EUR][1000 genomes]
rs11621916	0.89[EUR][1000 genomes]
rs11622925	0.89[EUR][1000 genomes]
rs11623262	0.90[EUR][1000 genomes]
rs11624301	0.91[ASN][1000 genomes]
rs11624532	0.89[EUR][1000 genomes]
rs11625932	0.82[EUR][1000 genomes]
rs11626145	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627012	0.90[EUR][1000 genomes]
rs11627089	0.87[EUR][1000 genomes]
rs11628423	0.90[EUR][1000 genomes]
rs11628546	0.90[EUR][1000 genomes]
rs11628665	0.87[EUR][1000 genomes]
rs11628994	0.84[AMR][1000 genomes]
rs13313365	0.87[EUR][1000 genomes]
rs13313366	0.87[EUR][1000 genomes]
rs14411	0.87[EUR][1000 genomes]
rs1953399	0.82[EUR][1000 genomes]
rs2148500	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28437671	0.87[EUR][1000 genomes]
rs28437822	0.85[EUR][1000 genomes]
rs28480224	0.83[EUR][1000 genomes]
rs28785205	0.90[EUR][1000 genomes]
rs3809399	0.82[EUR][1000 genomes]
rs4646285	0.89[EUR][1000 genomes]
rs4899311	0.81[EUR][1000 genomes]
rs4899313	0.82[EUR][1000 genomes]
rs4902752	0.81[EUR][1000 genomes]
rs4902753	0.81[EUR][1000 genomes]
rs55724465	0.85[EUR][1000 genomes]
rs56074637	0.82[EUR][1000 genomes]
rs56176047	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56177148	0.87[EUR][1000 genomes]
rs57492222	0.82[EUR][1000 genomes]
rs58582364	0.89[EUR][1000 genomes]
rs59066042	0.87[EUR][1000 genomes]
rs61356864	0.89[EUR][1000 genomes]
rs61408837	0.91[AMR][1000 genomes]
rs72725724	0.82[EUR][1000 genomes]
rs72725740	0.85[EUR][1000 genomes]
rs72725743	0.89[EUR][1000 genomes]
rs72725745	0.89[EUR][1000 genomes]
rs72725773	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72725776	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725792	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72725793	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72725794	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72725798	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72725799	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs943273	0.81[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	esv3373522	chr14:70293699-70297897	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70293600-70295400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:70293600-70295400	Enhancers	NHEK	skin
3	chr14:70293800-70295000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:70294200-70295200	Enhancers	HMEC	breast
5	chr14:70294200-70295400	Enhancers	Hela-S3	cervix
6	chr14:70294400-70299400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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