Variant report

Variant	rs72999303
Chromosome Location	chr1:152340767-152340768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10157860	1.00[EUR][1000 genomes]
rs11805976	1.00[EUR][1000 genomes]
rs11807452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807465	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810565	1.00[EUR][1000 genomes]
rs12062763	1.00[EUR][1000 genomes]
rs12068970	1.00[EUR][1000 genomes]
rs12071768	1.00[EUR][1000 genomes]
rs12076464	1.00[EUR][1000 genomes]
rs16833974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3120668	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3120669	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs477291	1.00[EUR][1000 genomes]
rs506407	1.00[EUR][1000 genomes]
rs58782040	1.00[EUR][1000 genomes]
rs60958057	1.00[EUR][1000 genomes]
rs61250742	1.00[EUR][1000 genomes]
rs61676926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61749580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6587670	1.00[EUR][1000 genomes]
rs6667236	1.00[EUR][1000 genomes]
rs6669029	1.00[EUR][1000 genomes]
rs6673073	1.00[EUR][1000 genomes]
rs6681629	1.00[EUR][1000 genomes]
rs6695830	1.00[EUR][1000 genomes]
rs72997398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73001316	1.00[EUR][1000 genomes]
rs73001318	1.00[EUR][1000 genomes]
rs73001319	1.00[EUR][1000 genomes]
rs73001326	1.00[EUR][1000 genomes]
rs73001329	1.00[EUR][1000 genomes]
rs73001338	1.00[EUR][1000 genomes]
rs73007787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007794	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7514641	1.00[EUR][1000 genomes]
rs7549175	1.00[EUR][1000 genomes]
rs7554863	1.00[EUR][1000 genomes]
rs9725444	1.00[EUR][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	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152322800-152342600	Weak transcription	Ovary	ovary
2	chr1:152338400-152340800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152339200-152340800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:152340200-152341200	Enhancers	NHEK	skin
5	chr1:152340600-152342000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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