Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:54929658..54932247-chr2:54948356..54951858,3	K562	blood:
2	chr2:54884446..54885396-chr2:54931298..54932461,8	MCF-7	breast:
3	chr2:54749911..54750650-chr2:54931167..54932344,3	MCF-7	breast:
4	chr2:54749977..54750495-chr2:54931192..54932037,2	MCF-7	breast:
5	chr2:54929858..54931983-chr2:54949708..54952359,2	MCF-7	breast:
6	chr2:54748253..54750106-chr2:54930790..54932794,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

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

rs_ID	r²[population]
rs10169439	0.91[EUR][1000 genomes]
rs10188185	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10194108	0.88[EUR][1000 genomes]
rs11883962	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11888644	0.87[EUR][1000 genomes]
rs12713276	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13419761	0.80[EUR][1000 genomes]
rs13428703	0.90[EUR][1000 genomes]
rs17046149	0.87[EUR][1000 genomes]
rs17046257	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs33946849	0.87[EUR][1000 genomes]
rs34456795	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs354232	0.87[ASN][1000 genomes]
rs58878579	0.81[EUR][1000 genomes]
rs6545440	0.87[EUR][1000 genomes]
rs6708082	0.91[EUR][1000 genomes]
rs6732751	0.81[EUR][1000 genomes]
rs6740110	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6744586	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752720	0.90[EUR][1000 genomes]
rs6753004	0.90[EUR][1000 genomes]
rs67909358	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7582640	0.91[EUR][1000 genomes]
rs9917248	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10175967	EML6	cis	Thyroid	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	chr2:54931200-54931800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:54931200-54935200	Enhancers	HepG2	liver
4	chr2:54931400-54931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:54931400-54931800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:54931400-54931800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:54931400-54931800	Enhancers	Brain Angular Gyrus	brain
8	chr2:54931400-54931800	Enhancers	Brain Hippocampus Middle	brain
9	chr2:54931400-54931800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:54931400-54932000	Enhancers	Brain Substantia Nigra	brain

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