Variant report

Variant	rs72789914
Chromosome Location	chr5:111865367-111865368
allele	C/G
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:32)

rs_ID	r²[population]
rs10037635	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10043247	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10043303	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10043305	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10463632	0.96[ASN][1000 genomes]
rs10463633	0.94[ASN][1000 genomes]
rs10463635	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10478092	0.98[ASN][1000 genomes]
rs11748606	0.99[ASN][1000 genomes]
rs11749490	0.98[ASN][1000 genomes]
rs11948057	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11948701	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11958362	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12659548	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs255702	0.98[ASN][1000 genomes]
rs341314	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs341316	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs341319	0.82[ASN][1000 genomes]
rs341328	0.82[ASN][1000 genomes]
rs341329	0.82[ASN][1000 genomes]
rs341330	0.82[ASN][1000 genomes]
rs341331	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs456491	0.81[ASN][1000 genomes]
rs463532	0.82[ASN][1000 genomes]
rs465644	0.82[ASN][1000 genomes]
rs55713401	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55818114	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56019374	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57909030	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58170444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58636222	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72789912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111861200-111868200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:111861600-111868000	Weak transcription	GM12878-XiMat	blood
3	chr5:111861600-111868200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:111862400-111868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:111863400-111865400	Enhancers	Adipose Nuclei	Adipose
6	chr5:111863400-111865600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:111863400-111866200	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr5:111865200-111865800	Enhancers	HUES6 Cell Line	embryonic stem cell

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