Variant report

Variant	rs73680367
Chromosome Location	chr8:54827938-54827939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55665326	1.00[EUR][1000 genomes]
rs56078867	1.00[EUR][1000 genomes]
rs56304962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57145872	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59612810	1.00[EUR][1000 genomes]
rs60106847	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61057223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654796	1.00[EUR][1000 genomes]
rs7012717	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587687	1.00[EUR][1000 genomes]
rs73587690	1.00[EUR][1000 genomes]
rs73589210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589216	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589217	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680352	1.00[EUR][1000 genomes]
rs73680378	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680380	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842748	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842926	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843756	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844270	1.00[EUR][1000 genomes]
rs7846507	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54818600-54843600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:54819400-54830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:54819600-54829200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:54819600-54831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:54819800-54830600	Weak transcription	NHLF	lung
6	chr8:54823000-54830600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:54825000-54833000	Weak transcription	A549	lung
8	chr8:54825800-54828000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:54825800-54829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:54825800-54829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:54826000-54828400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:54826600-54830200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:54827000-54830000	Weak transcription	HMEC	breast
14	chr8:54827000-54830400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:54827200-54828800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:54827600-54828400	Strong transcription	NHEK	skin
17	chr8:54827600-54829600	ZNF genes & repeats	GM12878-XiMat	blood
18	chr8:54827800-54828200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:54827800-54829400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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