Variant report

Variant	rs2088814
Chromosome Location	chr3:156913790-156913791
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	chr3:156892217..156895183-chr3:156912463..156914035,2	K562	blood:

Variant related genes	Relation type
ENSG00000243176	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10212545	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10451871	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10451916	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11926167	0.80[EUR][1000 genomes]
rs12629549	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12637518	0.83[AMR][1000 genomes]
rs13081038	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13084070	0.85[EUR][1000 genomes]
rs1392799	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1587534	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16827350	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2088810	0.83[ASN][1000 genomes]
rs2133952	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384296	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35217153	0.84[EUR][1000 genomes]
rs4368452	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4383468	0.82[EUR][1000 genomes]
rs4563363	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4632503	0.80[EUR][1000 genomes]
rs4680342	0.88[EUR][1000 genomes]
rs4680344	0.82[EUR][1000 genomes]
rs4680346	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4680348	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6441114	0.88[EUR][1000 genomes]
rs6441121	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6441122	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67196056	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6767619	0.84[EUR][1000 genomes]
rs6771109	0.82[ASN][1000 genomes]
rs6780831	0.80[EUR][1000 genomes]
rs6781991	0.85[EUR][1000 genomes]
rs6783595	0.85[EUR][1000 genomes]
rs6789178	0.82[AMR][1000 genomes]
rs6805114	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6808284	0.80[EUR][1000 genomes]
rs6808457	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6809003	0.85[EUR][1000 genomes]
rs6809394	0.85[EUR][1000 genomes]
rs7620178	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7636185	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7638194	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7642179	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7647643	0.84[EUR][1000 genomes]
rs924517	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9289978	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9289979	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9289980	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9827676	0.81[EUR][1000 genomes]
rs9831830	0.82[AMR][1000 genomes]
rs9834756	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9834771	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9838724	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9848409	0.85[EUR][1000 genomes]
rs9861469	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9867618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9872340	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156905000-156922800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:156905200-156919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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