Variant report

Variant	rs16889293
Chromosome Location	chr8:117952142-117952143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1348794	0.89[CHB][hapmap];0.84[CHD][hapmap];0.85[ASN][1000 genomes]
rs1446534	0.85[TSI][hapmap]
rs16889283	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2860414	0.81[ASW][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2921723	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3020176	0.94[CHB][hapmap];0.81[CHD][hapmap];0.85[ASN][1000 genomes]
rs3020179	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3020180	0.81[ASW][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.89[LWK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs66849010	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998067	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7821541	0.81[YRI][hapmap]
rs977700	0.81[ASW][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.86[LWK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9918796	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16889293	MTBP	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117951000-117957600	Weak transcription	Pancreas	Pancrea
2	chr8:117951200-117953400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:117951200-117953600	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:117951200-117955400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:117951200-117962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:117951400-117952400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:117952000-117952200	Flanking Active TSS	HMEC	breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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