Variant report

Variant	rs12447033
Chromosome Location	chr16:71583655-71583656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10500562	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12149264	0.90[CEU][hapmap];1.00[YRI][hapmap]
rs12444890	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12446333	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs12919417	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12922775	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12923781	0.81[AMR][1000 genomes]
rs12924650	0.91[CEU][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap]
rs12927006	0.91[CEU][hapmap];0.80[AMR][1000 genomes]
rs12927456	0.91[CEU][hapmap];0.82[AMR][1000 genomes]
rs12927768	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12931191	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17280181	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17282500	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17345863	0.89[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17347255	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17354693	0.91[CEU][hapmap];0.89[TSI][hapmap]
rs17355804	0.91[CEU][hapmap];1.00[LWK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs17356206	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs17356316	0.91[CEU][hapmap];0.82[TSI][hapmap]
rs34181942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34381861	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34753286	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34849731	0.84[AMR][1000 genomes]
rs35394108	0.82[AMR][1000 genomes]
rs35837657	0.81[AFR][1000 genomes]
rs71403859	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7203606	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8051974	0.91[CEU][hapmap];1.00[GIH][hapmap]
rs8053720	0.81[CEU][hapmap];0.90[MEX][hapmap]
rs8057616	0.81[AFR][1000 genomes]
rs8063455	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8064179	0.89[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12447033	TK2	cis	parietal	SCAN
rs12447033	ZNF23	cis	cerebellum	SCAN
rs12447033	HSF4	cis	parietal	SCAN
rs12447033	NRN1L	cis	parietal	SCAN
rs12447033	HP	cis	multi-tissue	Pritchard
rs12447033	ATP6V0D1	cis	parietal	SCAN
rs12447033	CTRL	cis	cerebellum	SCAN
rs12447033	RP11-432I5.1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71583200-71587000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links