Variant report

Variant	rs58344188
Chromosome Location	chr8:54826815-54826816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10504159	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11984932	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992921	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1483537	1.00[ASN][1000 genomes]
rs16919694	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1905359	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2128816	1.00[ASN][1000 genomes]
rs2128817	1.00[ASN][1000 genomes]
rs55938755	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56788440	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56863500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56900698	1.00[EUR][1000 genomes]
rs57122000	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57204839	1.00[ASN][1000 genomes]
rs57381301	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58070188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58603618	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58780122	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59371117	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59537268	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59633885	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59939582	1.00[ASN][1000 genomes]
rs60060985	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60067061	0.85[AMR][1000 genomes]
rs60594961	1.00[ASN][1000 genomes]
rs61054351	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73587686	1.00[ASN][1000 genomes]
rs73680368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680370	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680373	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680374	0.92[AMR][1000 genomes];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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	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
4	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	chr8:54820600-54827600	Weak transcription	NHEK	skin
7	chr8:54823000-54830600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:54825000-54827200	Enhancers	GM12878-XiMat	blood
9	chr8:54825000-54833000	Weak transcription	A549	lung
10	chr8:54825600-54827800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:54825800-54827000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:54825800-54827000	Strong transcription	HMEC	breast
13	chr8:54825800-54828000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:54825800-54829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:54825800-54829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:54826000-54827800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:54826000-54828400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:54826400-54827200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:54826600-54830200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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