Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171851085..171853826-chr1:171859070..171862052,2	K562	blood:

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

rs_ID	r²[population]
rs1015009	0.93[ASN][1000 genomes]
rs1015010	0.93[ASN][1000 genomes]
rs10436867	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798687	0.93[ASN][1000 genomes]
rs10798688	0.93[ASN][1000 genomes]
rs10798690	0.93[ASN][1000 genomes]
rs10798691	0.93[ASN][1000 genomes]
rs10798692	0.93[ASN][1000 genomes]
rs10798693	0.93[ASN][1000 genomes]
rs10798712	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913811	0.93[ASN][1000 genomes]
rs10913812	0.93[ASN][1000 genomes]
rs10913814	0.93[ASN][1000 genomes]
rs11579330	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12025368	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028585	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555384	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294723	0.93[ASN][1000 genomes]
rs2294724	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711798	0.83[ASN][1000 genomes]
rs72713710	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72713711	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7538839	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7546406	0.95[EUR][1000 genomes];0.99[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
rs12048200	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171844400-171858200	Weak transcription	Left Ventricle	heart
2	chr1:171847800-171853600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:171849800-171853600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:171850800-171853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:171851000-171853000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:171851000-171853000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:171851000-171853000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:171851000-171853000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:171851000-171853200	Weak transcription	Brain Angular Gyrus	brain
10	chr1:171851000-171853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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