Variant report

Variant	rs72679589
Chromosome Location	chr8:117560170-117560171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29196427..29197161-chr8:117559858..117560384,2	HCT-116	colon:
2	chr8:117560071..117561109-chr8:117650453..117651648,4	MCF-7	breast:
3	chr8:117559500..117561656-chr8:117726423..117728497,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16888486	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888499	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888508	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888522	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888589	1.00[ASN][1000 genomes]
rs16892766	1.00[ASN][1000 genomes]
rs56057462	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57606086	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679518	1.00[ASN][1000 genomes]
rs72679526	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679530	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679537	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679548	1.00[ASN][1000 genomes]
rs72679553	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679555	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679561	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679565	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679567	1.00[ASN][1000 genomes]
rs72679570	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679582	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679590	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679595	1.00[EUR][1000 genomes];1.00[ASN][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117546600-117566200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:117559400-117560600	Enhancers	Fetal Stomach	stomach
3	chr8:117559400-117560800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:117559400-117560800	Enhancers	Fetal Lung	lung
5	chr8:117559400-117560800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:117559400-117561200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:117559600-117560200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:117559600-117560200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:117559600-117560800	Enhancers	Adipose Nuclei	Adipose
10	chr8:117559600-117561400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:117559800-117561400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:117560000-117560600	Enhancers	Osteobl	bone
13	chr8:117560000-117560800	Enhancers	Spleen	Spleen

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