Variant report

Variant	rs58817640
Chromosome Location	chr6:38732619-38732620
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12173602	0.84[ASN][1000 genomes]
rs1612377	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1615744	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1678639	0.86[ASN][1000 genomes]
rs1678642	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1678643	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1678652	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1678653	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1678654	0.84[ASN][1000 genomes]
rs1678655	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1678656	0.84[ASN][1000 genomes]
rs1678658	0.81[ASN][1000 genomes]
rs1678659	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1678662	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1678663	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1678672	0.86[ASN][1000 genomes]
rs1678673	0.86[ASN][1000 genomes]
rs1678677	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1678678	0.86[ASN][1000 genomes]
rs1678679	0.84[ASN][1000 genomes]
rs1678736	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1738174	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1738175	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1738176	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1738178	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1738179	0.86[ASN][1000 genomes]
rs1738180	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1738181	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1738182	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1738183	0.83[ASN][1000 genomes]
rs1738251	0.89[ASN][1000 genomes]
rs1738252	0.84[ASN][1000 genomes]
rs1738253	0.84[ASN][1000 genomes]
rs1738254	0.84[ASN][1000 genomes]
rs1738255	0.84[ASN][1000 genomes]
rs1738256	0.84[ASN][1000 genomes]
rs1738259	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1738260	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1738261	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1738262	0.84[ASN][1000 genomes]
rs1738264	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1738265	0.84[ASN][1000 genomes]
rs1738266	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1738267	0.85[ASN][1000 genomes]
rs1738268	0.85[ASN][1000 genomes]
rs1738269	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2448400	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2448401	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4714178	0.84[ASN][1000 genomes]
rs9357280	0.86[ASN][1000 genomes]
rs9394532	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv830643	chr6:38726675-38905589	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv462915	chr6:38728142-38773293	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv602959	chr6:38728142-38786528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv470814	chr6:38728142-38790149	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58817640	GLO1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38706200-38738600	Weak transcription	K562	blood
2	chr6:38723400-38738400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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