Variant report

Variant	rs12549559
Chromosome Location	chr8:65002925-65002926
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10504371	0.89[EUR][1000 genomes]
rs12549556	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13255222	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256546	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13271553	0.93[ASN][1000 genomes]
rs13273490	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13280176	0.87[EUR][1000 genomes]
rs1444511	0.97[ASN][1000 genomes]
rs1550730	0.97[ASN][1000 genomes]
rs1838420	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1838421	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1838424	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2018264	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2083995	0.90[EUR][1000 genomes]
rs2099982	0.97[ASN][1000 genomes]
rs2356371	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2883916	0.99[ASN][1000 genomes]
rs35496690	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3910845	0.85[AMR][1000 genomes]
rs4027777	0.81[ASN][1000 genomes]
rs4147346	0.97[ASN][1000 genomes]
rs4475525	0.89[ASN][1000 genomes]
rs6472131	0.97[ASN][1000 genomes]
rs6981673	0.86[EUR][1000 genomes]
rs6985609	0.93[ASN][1000 genomes]
rs6988220	0.93[ASN][1000 genomes]
rs6991156	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7014553	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017705	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7844737	0.93[ASN][1000 genomes]
rs874777	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs920875	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv890969	chr8:64807144-65047353	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv890970	chr8:64975466-65125295	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12549559	TTPA	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64993000-65004800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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