Variant report

Variant	rs1266117
Chromosome Location	chr1:76526867-76526868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10443175	0.84[EUR][1000 genomes]
rs10873865	0.91[EUR][1000 genomes]
rs12123144	0.81[EUR][1000 genomes]
rs12125940	0.84[EUR][1000 genomes]
rs12126074	0.84[EUR][1000 genomes]
rs12127822	0.81[EUR][1000 genomes]
rs12145522	0.84[EUR][1000 genomes]
rs1251473	0.80[AFR][1000 genomes]
rs1251474	0.80[AFR][1000 genomes]
rs1251484	0.90[EUR][1000 genomes]
rs1251485	0.90[EUR][1000 genomes]
rs1251486	0.98[EUR][1000 genomes]
rs1251489	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251492	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251494	0.99[EUR][1000 genomes]
rs1251495	0.99[EUR][1000 genomes]
rs1251496	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251501	0.98[EUR][1000 genomes]
rs1251502	0.98[EUR][1000 genomes]
rs1251504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251506	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251507	0.98[EUR][1000 genomes]
rs1251509	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251510	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251512	0.98[EUR][1000 genomes]
rs1251513	0.98[EUR][1000 genomes]
rs1340690	0.90[EUR][1000 genomes]
rs1340691	0.86[EUR][1000 genomes]
rs17607383	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17659615	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1770895	0.87[EUR][1000 genomes]
rs34354538	0.88[EUR][1000 genomes]
rs35318380	0.84[EUR][1000 genomes]
rs35381129	0.84[EUR][1000 genomes]
rs5022490	0.95[EUR][1000 genomes]
rs60182743	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv947186	chr1:76512447-76530843	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1477	chr1:76515963-76534339	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv521786	chr1:76525783-76535434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76521800-76531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:76525600-76527600	Weak transcription	Brain Germinal Matrix	brain
3	chr1:76526200-76528800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:76526200-76531000	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links