Variant report

Variant	rs28809491
Chromosome Location	chr8:48666070-48666071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10092880	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10095193	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10097508	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10097783	0.84[ASN][1000 genomes]
rs10109158	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10958274	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1487438	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28485144	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28542855	0.84[AFR][1000 genomes]
rs28795698	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3614	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4521758	0.88[ASN][1000 genomes]
rs4873728	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4873737	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6993483	0.83[ASN][1000 genomes]
rs6995756	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014544	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7016660	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7017622	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72646383	0.87[AMR][1000 genomes]
rs72646396	0.85[EUR][1000 genomes]
rs72646401	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72647906	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7812323	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7813617	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818445	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7828380	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830350	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7830633	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7830743	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7831196	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832898	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7838910	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7839161	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7839407	0.88[ASN][1000 genomes]
rs7841661	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8178079	0.84[ASN][1000 genomes]
rs8178238	0.85[EUR][1000 genomes]
rs8178255	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8178258	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9918758	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv890849	chr8:48644337-48671294	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48665200-48672800	Weak transcription	K562	blood
2	chr8:48665200-48676000	Weak transcription	A549	lung
3	chr8:48665400-48675800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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