Variant report

Variant	rs28547245
Chromosome Location	chr14:79581108-79581109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10130794	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131285	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144702	0.80[AFR][1000 genomes]
rs10149302	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150122	1.00[AMR][1000 genomes]
rs10150906	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379131	0.85[AFR][1000 genomes]
rs13379188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379304	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28376793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450317	1.00[AMR][1000 genomes]
rs28667554	0.87[AFR][1000 genomes]
rs28673990	0.83[AFR][1000 genomes]
rs4609770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59058794	1.00[AMR][1000 genomes]
rs60147420	0.87[AFR][1000 genomes]
rs60958288	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142699	1.00[AMR][1000 genomes]
rs73316615	0.87[AFR][1000 genomes]
rs73316627	0.80[AFR][1000 genomes]
rs73320815	0.85[AFR][1000 genomes]
rs73322876	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324705	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324730	0.96[AFR][1000 genomes]
rs73324740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324748	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325827	1.00[AMR][1000 genomes]
rs8014991	0.91[AFR][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	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761846	chr14:79522198-79629157	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79578000-79581200	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:79578400-79581200	Enhancers	Colon Smooth Muscle	Colon
3	chr14:79579200-79584200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:79579600-79581200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:79580200-79584000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:79581000-79581200	Enhancers	Aorta	Aorta

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

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