Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:104233414..104235645-chr12:104261719..104263696,2	MCF-7	breast:
2	chr12:104233938..104236933-chr12:104262361..104264574,3	MCF-7	breast:
3	chr12:104262529..104265193-chr12:104278298..104280290,2	K562	blood:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

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

rs_ID	r²[population]
rs11111811	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11111812	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11111814	0.98[ASN][1000 genomes]
rs11111819	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111825	0.98[ASN][1000 genomes]
rs11111829	0.98[ASN][1000 genomes]
rs11111833	0.81[AFR][1000 genomes]
rs11111837	0.80[ASN][1000 genomes]
rs11111838	0.80[ASN][1000 genomes]
rs11111849	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11111850	0.80[ASN][1000 genomes]
rs11830285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228360	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2576974	0.97[ASN][1000 genomes]
rs3794246	0.81[AFR][1000 genomes]
rs4590949	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7295489	0.80[ASN][1000 genomes]
rs7301247	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7315947	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73175819	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73175822	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73177916	0.81[AFR][1000 genomes]
rs73177918	0.81[AFR][1000 genomes]
rs73177919	0.81[AFR][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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104250000-104263800	Weak transcription	Liver	Liver
2	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
3	chr12:104259200-104263800	Weak transcription	HepG2	liver
4	chr12:104262200-104264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:104262600-104264000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:104262800-104263800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:104262800-104264200	Weak transcription	Rectal Smooth Muscle	rectum

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