Variant report

No.	Distal block	Cell Line	Cell type
1	chr17:59867134..59868670-chr20:52610022..52612203,2	MCF-7	breast:
2	chr20:52610588..52612438-chr20:52687506..52690025,2	MCF-7	breast:
3	chr17:56707941..56710505-chr20:52611192..52614067,2	MCF-7	breast:
4	chr2:46937344..46938125-chr20:52610745..52611596,2	MCF-7	breast:
5	chr20:52610211..52612057-chr3:64008640..64010883,2	MCF-7	breast:
6	chr2:220405950..220406674-chr20:52611300..52612224,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163636	Chromatin interaction
ENSG00000212195	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs176383	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs208361	0.97[ASN][1000 genomes]
rs208365	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs208366	0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[ASN][1000 genomes]
rs208382	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs208383	0.98[ASN][1000 genomes]
rs376105	0.86[JPT][hapmap]
rs380572	0.91[JPT][hapmap]
rs6013858	0.83[YRI][hapmap]
rs6013864	0.83[YRI][hapmap]
rs6013866	0.83[YRI][hapmap]
rs6013867	0.83[YRI][hapmap]
rs6022891	0.83[YRI][hapmap]
rs6022892	0.83[YRI][hapmap]
rs6022893	0.83[YRI][hapmap]
rs6022894	0.91[YRI][hapmap]
rs6022896	0.83[YRI][hapmap]
rs6022903	0.83[YRI][hapmap]
rs6022907	0.83[YRI][hapmap]
rs6022908	0.82[YRI][hapmap]
rs6022909	0.83[YRI][hapmap]
rs6097705	0.83[YRI][hapmap]
rs6127048	0.96[ASN][1000 genomes]
rs7274783	0.83[YRI][hapmap]
rs878868	0.82[YRI][hapmap]

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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52601400-52612400	Weak transcription	Brain Angular Gyrus	brain
3	chr20:52601400-52612400	Weak transcription	Brain Anterior Caudate	brain
4	chr20:52601800-52612400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr20:52601800-52630800	Weak transcription	Stomach Mucosa	stomach
6	chr20:52604400-52618200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr20:52610000-52612600	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr20:52610600-52612200	Weak transcription	Brain Substantia Nigra	brain
9	chr20:52610800-52612800	Active TSS	HSMMtube	muscle
10	chr20:52611000-52612200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr20:52611200-52612400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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