Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1015009	0.91[ASN][1000 genomes]
rs1015010	0.91[ASN][1000 genomes]
rs10436867	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798687	0.91[ASN][1000 genomes]
rs10798688	0.91[ASN][1000 genomes]
rs10798690	0.91[ASN][1000 genomes]
rs10798691	0.91[ASN][1000 genomes]
rs10798692	0.91[ASN][1000 genomes]
rs10798693	0.91[ASN][1000 genomes]
rs10798712	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913811	0.91[ASN][1000 genomes]
rs10913812	0.91[ASN][1000 genomes]
rs10913814	0.91[ASN][1000 genomes]
rs11579330	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12025368	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12028585	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12048200	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1555384	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294723	0.91[ASN][1000 genomes]
rs72711798	0.81[ASN][1000 genomes]
rs72713710	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713711	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7538839	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7546406	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2294724	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171854000-171866000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:171857800-171862000	Weak transcription	Aorta	Aorta
3	chr1:171858000-171867200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:171858200-171859200	Enhancers	Fetal Brain Male	brain
5	chr1:171858400-171868200	Weak transcription	Left Ventricle	heart

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