Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1011267	0.84[EUR][1000 genomes]
rs10800459	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10800463	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10919209	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10919211	0.85[AMR][1000 genomes]
rs11484813	0.85[AMR][1000 genomes]
rs11487550	0.83[AMR][1000 genomes]
rs12086443	0.85[AMR][1000 genomes]
rs1963141	0.81[AMR][1000 genomes]
rs2179171	0.81[AMR][1000 genomes]
rs2179188	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2236866	0.93[ASN][1000 genomes]
rs2236867	0.93[ASN][1000 genomes]
rs2244529	0.90[ASN][1000 genomes]
rs3753306	0.86[YRI][hapmap]
rs3917647	0.96[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3917672	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3917679	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3917683	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs3917688	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3917698	0.90[ASN][1000 genomes]
rs4508079	0.82[AMR][1000 genomes]
rs6687517	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7513508	0.85[AMR][1000 genomes]
rs7517544	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7525857	0.81[AMR][1000 genomes]
rs7544874	0.81[AMR][1000 genomes]
rs764199	0.94[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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs732314	PBX1	cis	parietal	SCAN
rs732314	F5	cis	parietal	SCAN
rs732314	SELL	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169591600-169599600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr1:169592200-169599400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:169592200-169599600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:169592200-169599800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:169594400-169599400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:169596800-169599600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:169597200-169599600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:169598000-169600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:169598200-169599800	Enhancers	Primary T cells from cord blood	blood
10	chr1:169598400-169602200	Weak transcription	Dnd41	blood
11	chr1:169598800-169599400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:169598800-169599600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:169599000-169599600	Enhancers	Lung	lung
14	chr1:169599000-169599800	Enhancers	HUVEC	blood vessel
15	chr1:169599000-169600000	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:169599200-169599400	Enhancers	Fetal Thymus	thymus
17	chr1:169599200-169599600	Enhancers	Primary T cells fromperipheralblood	blood

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