Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12120554	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12121064	0.87[ASN][1000 genomes]
rs12122025	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12123334	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12123946	0.87[ASN][1000 genomes]
rs12125022	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12130277	0.87[ASN][1000 genomes]
rs12133814	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12135871	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12137824	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12137825	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12140603	0.88[ASN][1000 genomes]
rs12141726	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12144607	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12145177	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2421949	0.87[ASN][1000 genomes]
rs61805807	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61805811	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61805813	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61805815	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6673009	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74126528	0.87[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
rs12134649	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171879800-171908000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:171884200-171903400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:171886800-171902800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:171889800-171895200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:171889800-171897600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:171889800-171901800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:171889800-171902600	Weak transcription	Brain Inferior Temporal Lobe	brain

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