Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:105355342..105357518-chr12:105358674..105361105,2	K562	blood:
2	chr12:105354302..105359267-chr12:105378860..105381853,4	MCF-7	breast:
3	chr12:105358604..105363045-chr12:105378560..105382753,4	MCF-7	breast:
4	chr12:105351015..105355585-chr12:105357288..105360893,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136052	Chromatin interaction
ENSG00000151131	Chromatin interaction

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

rs_ID	r²[population]
rs12579120	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12579129	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12579441	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12579790	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12580128	0.86[AMR][1000 genomes]
rs12580237	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12580271	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580282	1.00[EUR][1000 genomes]
rs12580384	1.00[EUR][1000 genomes]
rs12581352	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12582090	1.00[EUR][1000 genomes]
rs12582132	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17036545	0.81[AMR][1000 genomes]
rs17036606	1.00[EUR][1000 genomes]
rs35938519	1.00[EUR][1000 genomes]
rs61060789	1.00[EUR][1000 genomes]
rs7135496	1.00[EUR][1000 genomes]
rs73383435	0.86[AMR][1000 genomes]
rs73383439	0.93[AMR][1000 genomes]
rs73383441	0.93[AMR][1000 genomes]
rs73383473	0.81[AMR][1000 genomes]
rs73383483	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73383487	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73383495	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383498	1.00[EUR][1000 genomes]
rs73387230	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73399934	0.86[AMR][1000 genomes]
rs73399947	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105356600-105359400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:105358800-105360000	Enhancers	GM12878-XiMat	blood

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