Variant report

Variant	rs9388880
Chromosome Location	chr6:131403207-131403208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10872375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11154611	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11760051	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12195366	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12196734	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12197829	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12214021	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17059954	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2151068	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28812545	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4259270	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62423583	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6901548	0.81[ASN][1000 genomes]
rs6902930	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6921299	0.81[ASN][1000 genomes]
rs6923720	0.94[ASN][1000 genomes]
rs6926372	0.81[ASN][1000 genomes]
rs7763960	0.80[ASN][1000 genomes]
rs9321264	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9372987	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9372989	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9375784	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9375785	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9375787	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9375788	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9375789	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9375790	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9375795	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9375796	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9388873	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9388876	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398967	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9398969	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398972	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398973	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9398975	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398976	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402310	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9402314	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9483210	0.81[ASN][1000 genomes]
rs9483218	0.81[ASN][1000 genomes]
rs951251	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv10623	chr6:131397221-131418195	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9388880	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131401800-131403800	Enhancers	HepG2	liver

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