Variant report

Variant	rs72720116
Chromosome Location	chr1:86883554-86883555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10493790	0.88[AMR][1000 genomes]
rs11161810	0.83[AMR][1000 genomes]
rs11161812	0.83[AMR][1000 genomes]
rs11161814	0.83[AMR][1000 genomes]
rs11161816	0.86[AMR][1000 genomes]
rs11161817	0.88[AMR][1000 genomes]
rs11161831	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1158833	0.88[AMR][1000 genomes]
rs12123660	0.83[AMR][1000 genomes]
rs12125965	0.83[AMR][1000 genomes]
rs12130284	0.83[AMR][1000 genomes]
rs12145243	0.88[AMR][1000 genomes]
rs12146009	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12403033	0.83[AMR][1000 genomes]
rs12406320	0.88[AMR][1000 genomes]
rs1413431	0.88[AMR][1000 genomes]
rs1413432	0.83[AMR][1000 genomes]
rs17409213	0.88[AMR][1000 genomes]
rs17409304	0.88[AMR][1000 genomes]
rs17449526	0.88[AMR][1000 genomes]
rs1814203	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1931360	0.88[AMR][1000 genomes]
rs1931361	0.85[AMR][1000 genomes]
rs272489	0.83[AMR][1000 genomes]
rs272497	0.81[AMR][1000 genomes]
rs272499	0.85[AMR][1000 genomes]
rs272512	0.82[AMR][1000 genomes]
rs272518	0.83[AMR][1000 genomes]
rs35489949	0.88[AMR][1000 genomes]
rs3737673	0.88[AMR][1000 genomes]
rs3765983	0.88[AMR][1000 genomes]
rs3820039	0.83[ASN][1000 genomes]
rs421105	0.82[AMR][1000 genomes]
rs5026277	0.89[AMR][1000 genomes]
rs56104000	0.88[AMR][1000 genomes]
rs56408800	0.88[AMR][1000 genomes]
rs57160573	0.81[ASN][1000 genomes]
rs57210989	0.88[AMR][1000 genomes]
rs61124915	0.88[AMR][1000 genomes]
rs72720129	0.84[AMR][1000 genomes]
rs72720130	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7518184	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs977919	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86882200-86885200	Weak transcription	Esophagus	oesophagus
2	chr1:86882200-86894800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:86882400-86885000	Weak transcription	NHEK	skin
4	chr1:86882400-86885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:86882400-86885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:86882400-86885200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:86882400-86885200	Weak transcription	Hela-S3	cervix

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