Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54927376..54930220-chr2:54933382..54935285,3	K562	blood:
2	chr2:54913674..54915874-chr2:54933513..54936238,2	K562	blood:

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

rs_ID	r²[population]
rs10191922	0.90[ASN][1000 genomes]
rs168503	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs168506	0.88[ASN][1000 genomes]
rs168507	0.81[EUR][1000 genomes]
rs168508	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs171350	0.88[ASN][1000 genomes]
rs17416806	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs181348	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1821138	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs187124	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs191628	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2931463	0.90[ASN][1000 genomes]
rs2941591	0.90[ASN][1000 genomes]
rs2971875	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2971889	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs354187	0.90[ASN][1000 genomes]
rs354209	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs354213	0.92[ASN][1000 genomes]
rs354214	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs354223	0.83[ASN][1000 genomes]
rs354224	0.88[ASN][1000 genomes]
rs354226	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs354228	0.89[ASN][1000 genomes]
rs354231	0.90[ASN][1000 genomes]
rs354236	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs354237	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs354238	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs354243	0.82[EUR][1000 genomes];0.81[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2567835	EML6	cis	Thyroid	GTEx
rs2567835	EML6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54922400-54935800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:54931200-54935200	Enhancers	HepG2	liver
3	chr2:54931800-54934800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:54931800-54935600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:54931800-54935800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:54931800-54935800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:54931800-54935800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:54931800-54935800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:54932000-54935800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:54932400-54935600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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