Variant report

Variant	rs11693815
Chromosome Location	chr2:21653983-21653984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10168561	0.89[EUR][1000 genomes]
rs10182529	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10185804	0.98[EUR][1000 genomes]
rs10187591	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188686	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206256	0.89[EUR][1000 genomes]
rs1030323	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1030736	0.88[EUR][1000 genomes]
rs1030737	0.88[EUR][1000 genomes]
rs11125980	0.86[EUR][1000 genomes]
rs11125982	0.86[EUR][1000 genomes]
rs11125983	0.86[EUR][1000 genomes]
rs11679127	0.90[AFR][1000 genomes]
rs11684506	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11695742	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11897265	0.90[EUR][1000 genomes]
rs12467135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713505	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs12713531	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12713547	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713550	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713613	0.98[EUR][1000 genomes]
rs13027723	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383973	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420091	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13422474	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13424669	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13426350	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430808	0.88[EUR][1000 genomes]
rs17042250	0.86[EUR][1000 genomes]
rs17042251	0.86[EUR][1000 genomes]
rs1865331	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1865332	0.92[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2117302	0.86[EUR][1000 genomes]
rs2164053	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2164054	0.85[EUR][1000 genomes]
rs2196164	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2216953	0.98[EUR][1000 genomes]
rs2338024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34073712	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34120876	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34468506	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35011116	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35325285	0.82[EUR][1000 genomes]
rs35585102	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4141645	0.90[EUR][1000 genomes]
rs4557007	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6546010	0.85[EUR][1000 genomes]
rs6546013	0.84[EUR][1000 genomes]
rs6546014	0.84[EUR][1000 genomes]
rs6546015	0.84[EUR][1000 genomes]
rs6546089	0.86[EUR][1000 genomes]
rs6705624	0.85[EUR][1000 genomes]
rs6706857	0.85[EUR][1000 genomes]
rs6717828	0.86[EUR][1000 genomes]
rs6717947	0.94[EUR][1000 genomes]
rs6746898	0.97[EUR][1000 genomes]
rs736442	0.86[EUR][1000 genomes]
rs7562000	0.84[EUR][1000 genomes]
rs7567398	0.96[EUR][1000 genomes]
rs7568314	0.94[EUR][1000 genomes]
rs7581122	0.83[EUR][1000 genomes]
rs7594499	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7596106	0.89[EUR][1000 genomes]
rs9973644	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973753	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11693815	FKBP1B	cis	cerebellum	SCAN
rs11693815	TP53I3	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21646800-21690600	Weak transcription	Aorta	Aorta
2	chr2:21653800-21654200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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