Variant report

Variant	rs28485247
Chromosome Location	chr8:125418472-125418473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10090489	0.90[ASN][1000 genomes]
rs10093809	0.89[ASN][1000 genomes]
rs10093812	0.90[ASN][1000 genomes]
rs17369882	0.93[ASN][1000 genomes]
rs28589797	0.93[ASN][1000 genomes]
rs28657471	0.90[ASN][1000 genomes]
rs28716042	0.91[AFR][1000 genomes]
rs4316136	0.90[ASN][1000 genomes]
rs66538719	0.93[ASN][1000 genomes]
rs66579093	0.81[ASN][1000 genomes]
rs67086747	0.90[ASN][1000 genomes]
rs6990592	0.90[ASN][1000 genomes]
rs6990925	0.90[ASN][1000 genomes]
rs72711162	0.90[ASN][1000 genomes]
rs72721427	0.89[ASN][1000 genomes]
rs72721429	0.89[ASN][1000 genomes]
rs72721430	0.90[ASN][1000 genomes]
rs72721432	0.90[ASN][1000 genomes]
rs72721435	0.90[ASN][1000 genomes]
rs72721437	0.90[ASN][1000 genomes]
rs72721440	0.88[ASN][1000 genomes]
rs72721441	0.90[ASN][1000 genomes]
rs72721443	0.90[ASN][1000 genomes]
rs7833150	0.90[ASN][1000 genomes]
rs9886564	0.90[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers 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 miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125415800-125420200	Weak transcription	Fetal Heart	heart
2	chr8:125416000-125419200	Weak transcription	Fetal Intestine Small	intestine

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