Variant report

Variant	rs466626
Chromosome Location	chr3:161103629-161103630
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161097507..161100487-chr3:161101328..161104049,2	K562	blood:
2	chr3:160344731..160346992-chr3:161101711..161103995,2	MCF-7	breast:
3	chr3:161102931..161104858-chr3:161108932..161110703,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs13083229	0.81[TSI][hapmap]
rs1382427	0.84[CEU][hapmap]
rs1478565	0.85[CEU][hapmap]
rs1478568	0.82[MEX][hapmap];0.81[TSI][hapmap]
rs163328	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs189270	0.85[CEU][hapmap]
rs1993891	0.85[CEU][hapmap]
rs336541	0.85[CEU][hapmap]
rs336543	0.85[CEU][hapmap]
rs336549	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs336551	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336561	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336567	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs336569	0.80[EUR][1000 genomes]
rs336570	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs336572	0.88[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs336577	0.85[CEU][hapmap]
rs336583	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs336585	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs336586	0.84[CEU][hapmap]
rs336589	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs336590	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs336591	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs336593	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs339101	0.88[CEU][hapmap]
rs339114	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849524	0.85[CEU][hapmap]
rs4273380	0.85[CEU][hapmap]
rs4370045	0.85[CEU][hapmap]
rs4493449	0.85[CEU][hapmap]
rs455386	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs456611	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs457272	0.80[EUR][1000 genomes]
rs459697	0.81[EUR][1000 genomes]
rs4597724	0.85[CEU][hapmap]
rs460508	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs461638	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs462413	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs463928	0.84[CEU][hapmap]
rs464766	0.85[CEU][hapmap]
rs465985	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6441373	0.85[CEU][hapmap]
rs6765269	0.84[CEU][hapmap]
rs6775627	0.84[CEU][hapmap]
rs6791213	0.81[TSI][hapmap]
rs6794601	0.85[CEU][hapmap]
rs7615592	0.85[CEU][hapmap]
rs7618391	0.82[CHB][hapmap]
rs7623206	0.85[CEU][hapmap]
rs7631479	0.88[CEU][hapmap]
rs7652267	0.80[TSI][hapmap]
rs7653361	0.85[CEU][hapmap]
rs9821201	0.85[CEU][hapmap]
rs9850455	0.85[CEU][hapmap]
rs9863590	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9870059	0.81[CEU][hapmap]
rs9872514	0.85[CEU][hapmap]

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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
3	nsv829772	chr3:161047817-161202554	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv877710	chr3:161087857-161245414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs466626	PPM1L	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161102800-161106200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr3:161103200-161103800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:161103200-161104000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:161103200-161105600	Enhancers	Stomach Mucosa	stomach
5	chr3:161103200-161105800	Enhancers	HepG2	liver

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