Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117562786..117564718-chr8:117778178..117780245,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction

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

rs_ID	r²[population]
rs16888486	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888522	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888589	1.00[ASN][1000 genomes]
rs16892766	1.00[ASN][1000 genomes]
rs56057462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57606086	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679518	1.00[ASN][1000 genomes]
rs72679526	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679530	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679537	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679548	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72679553	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679555	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679561	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679567	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72679570	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679589	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv527309	chr8:116888468-117563532	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117546600-117566200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:117560200-117564400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:117560600-117564000	Weak transcription	Fetal Stomach	stomach
4	chr8:117560600-117564200	Weak transcription	Osteobl	bone
5	chr8:117560800-117564000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:117560800-117564000	Weak transcription	Fetal Lung	lung
7	chr8:117560800-117564200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:117560800-117564400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:117561400-117563800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:117561400-117564200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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