Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:45936322..45939526-chr12:46119139..46122745,5	MCF-7	breast:
2	chr12:45932625..45935363-chr12:45935475..45937376,2	K562	blood:
3	chr12:45932018..45945296-chr12:46116937..46125620,30	MCF-7	breast:
4	chr12:45929552..45932497-chr12:45935767..45937875,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction
ENSG00000189079	Chromatin interaction

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

rs_ID	r²[population]
rs10785580	0.81[EUR][1000 genomes]
rs10880810	0.84[AFR][1000 genomes]
rs10880811	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10880813	0.92[AFR][1000 genomes]
rs10880814	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10880815	0.82[EUR][1000 genomes]
rs11183094	0.84[AFR][1000 genomes]
rs11183097	0.81[EUR][1000 genomes]
rs11183098	0.83[AFR][1000 genomes]
rs11183100	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11183102	0.87[EUR][1000 genomes]
rs11183103	0.82[EUR][1000 genomes]
rs1806689	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2408249	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2897908	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3958762	0.81[EUR][1000 genomes]
rs4450222	0.83[AFR][1000 genomes]
rs4600280	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4606536	0.92[AFR][1000 genomes]
rs4768633	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4768634	0.84[ASN][1000 genomes]
rs55987675	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61923980	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7296623	0.88[AFR][1000 genomes]
rs7303050	0.92[AFR][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	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv691	chr12:45896295-45946455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1842210	chr12:45903118-45940761	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45935200-45937000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:45935200-45937200	Weak transcription	Fetal Thymus	thymus
3	chr12:45935200-45937200	Weak transcription	Dnd41	blood
4	chr12:45935200-45940400	Weak transcription	Thymus	Thymus
5	chr12:45935400-45937000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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