Variant report

Variant	rs16888589
Chromosome Location	chr8:117635602-117635603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11986063	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16888486	1.00[ASN][1000 genomes]
rs16888499	1.00[ASN][1000 genomes]
rs16888508	1.00[ASN][1000 genomes]
rs16888522	1.00[ASN][1000 genomes]
rs16892766	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56057462	1.00[ASN][1000 genomes]
rs57606086	1.00[ASN][1000 genomes]
rs72679518	1.00[ASN][1000 genomes]
rs72679526	1.00[ASN][1000 genomes]
rs72679530	1.00[ASN][1000 genomes]
rs72679534	1.00[ASN][1000 genomes]
rs72679537	1.00[ASN][1000 genomes]
rs72679548	1.00[ASN][1000 genomes]
rs72679553	1.00[ASN][1000 genomes]
rs72679555	1.00[ASN][1000 genomes]
rs72679561	1.00[ASN][1000 genomes]
rs72679565	1.00[ASN][1000 genomes]
rs72679567	1.00[ASN][1000 genomes]
rs72679570	1.00[ASN][1000 genomes]
rs72679582	1.00[ASN][1000 genomes]
rs72679589	1.00[ASN][1000 genomes]
rs72679590	1.00[ASN][1000 genomes]
rs72679593	1.00[ASN][1000 genomes]
rs72679595	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv2757288	chr8:117623719-117645687	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
3	esv2759638	chr8:117623719-117645687	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1016449	chr8:117630683-117644145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1024038	chr8:117630683-117645687	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1020480	chr8:117630683-117652448	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16888589	C8orf53	cis	multi-tissue	Pritchard

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117631200-117641600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:117635200-117636200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:117635400-117635800	Enhancers	Fetal Lung	lung
4	chr8:117635400-117635800	Enhancers	Right Atrium	heart
5	chr8:117635400-117636200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:117635400-117636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:117635400-117636200	Enhancers	Fetal Stomach	stomach
8	chr8:117635400-117636400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:117635400-117636400	Enhancers	Fetal Muscle Leg	muscle
10	chr8:117635600-117635800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:117635600-117635800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:117635600-117636000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:117635600-117636400	Enhancers	Pancreas	Pancrea
14	chr8:117635600-117636600	Enhancers	Brain Hippocampus Middle	brain

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