Variant report

Variant	rs1451606
Chromosome Location	chr1:166174572-166174573
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	chr1:166162627..166165550-chr1:166172239..166174984,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10494456	0.94[EUR][1000 genomes]
rs10753713	0.94[EUR][1000 genomes]
rs10753714	0.94[EUR][1000 genomes]
rs10800201	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800202	0.94[EUR][1000 genomes]
rs10918369	0.92[MEX][hapmap]
rs10918385	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10918386	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10918387	0.94[EUR][1000 genomes]
rs10918388	0.94[EUR][1000 genomes]
rs10918401	0.87[EUR][1000 genomes]
rs10918403	0.87[EUR][1000 genomes]
rs10918405	0.88[EUR][1000 genomes]
rs10918406	0.87[EUR][1000 genomes]
rs12028067	0.93[EUR][1000 genomes]
rs12069481	0.82[CEU][hapmap]
rs12076837	0.82[CHB][hapmap]
rs12083547	0.87[EUR][1000 genomes]
rs12097110	0.84[EUR][1000 genomes]
rs12126834	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12144426	0.81[AMR][1000 genomes]
rs12760939	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1349526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349527	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432119	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1451600	0.87[EUR][1000 genomes]
rs1560570	0.92[EUR][1000 genomes]
rs16856734	0.94[EUR][1000 genomes]
rs16856830	0.80[GIH][hapmap]
rs2116519	0.82[CHB][hapmap];0.96[MEX][hapmap]
rs28568389	0.94[EUR][1000 genomes]
rs4074897	0.92[MEX][hapmap]
rs4147072	0.94[EUR][1000 genomes]
rs4378185	0.94[EUR][1000 genomes]
rs4391646	0.93[EUR][1000 genomes]
rs4556335	0.93[EUR][1000 genomes]
rs4656481	0.82[CHB][hapmap];0.96[MEX][hapmap]
rs4657530	0.84[AMR][1000 genomes]
rs56132740	0.87[EUR][1000 genomes]
rs61835144	0.92[EUR][1000 genomes]
rs61835149	0.94[EUR][1000 genomes]
rs61835150	0.94[EUR][1000 genomes]
rs61835151	0.93[EUR][1000 genomes]
rs6426968	0.92[MEX][hapmap]
rs6658248	0.91[EUR][1000 genomes]
rs6658513	0.91[EUR][1000 genomes]
rs6681924	0.82[CHB][hapmap];0.84[TSI][hapmap]
rs6687444	0.87[EUR][1000 genomes]
rs6698285	0.92[MEX][hapmap]
rs6698973	0.92[MEX][hapmap]
rs7513325	0.92[MEX][hapmap]
rs7524473	0.80[GIH][hapmap]
rs7552225	0.94[EUR][1000 genomes]
rs896403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896404	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1012972	chr1:166166695-166206473	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1009639	chr1:166174369-166222405	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv998231	chr1:166174516-166228386	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1451606	PBX1	cis	cerebellum	SCAN
rs1451606	MGST3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166172800-166175600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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