Variant report

Variant	rs72679555
Chromosome Location	chr8:117513702-117513703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117509479..117512134-chr8:117512409..117514292,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16888486	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888499	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888508	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888522	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888541	0.81[AFR][1000 genomes]
rs16888589	1.00[ASN][1000 genomes]
rs16892766	1.00[ASN][1000 genomes]
rs55883119	0.88[AFR][1000 genomes]
rs56057462	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57205043	0.81[AFR][1000 genomes]
rs57302771	0.81[AFR][1000 genomes]
rs57606086	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679518	1.00[ASN][1000 genomes]
rs72679526	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679530	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679534	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679537	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679548	1.00[ASN][1000 genomes]
rs72679553	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679565	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679567	1.00[ASN][1000 genomes]
rs72679570	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679582	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679589	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679590	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679593	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679595	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73700708	0.81[AFR][1000 genomes]
rs73700714	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527309	chr8:116888468-117563532	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117506600-117513800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:117507000-117513800	Weak transcription	NHDF-Ad	bronchial
3	chr8:117513600-117514600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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