Variant report

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

rs_ID	r²[population]
rs1015009	0.94[ASN][1000 genomes]
rs1015010	0.94[ASN][1000 genomes]
rs10436867	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798687	0.94[ASN][1000 genomes]
rs10798688	0.94[ASN][1000 genomes]
rs10798690	0.94[ASN][1000 genomes]
rs10798691	0.94[ASN][1000 genomes]
rs10798692	0.94[ASN][1000 genomes]
rs10798693	0.94[ASN][1000 genomes]
rs10913811	0.94[ASN][1000 genomes]
rs10913812	0.94[ASN][1000 genomes]
rs10913814	0.94[ASN][1000 genomes]
rs11579330	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12025368	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12028585	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12048200	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1555384	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294723	0.94[ASN][1000 genomes]
rs2294724	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72711798	0.84[ASN][1000 genomes]
rs72713710	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713711	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538839	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7546406	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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
rs10798712	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171812200-171833200	Weak transcription	Brain Germinal Matrix	brain
2	chr1:171814600-171833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:171819600-171832800	Weak transcription	Left Ventricle	heart
4	chr1:171820200-171832600	Weak transcription	Brain Anterior Caudate	brain
5	chr1:171820600-171827600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:171821800-171829600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:171822200-171832800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:171822400-171827600	Weak transcription	NHDF-Ad	bronchial
9	chr1:171822400-171828000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:171822400-171832200	Weak transcription	Brain Inferior Temporal Lobe	brain

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