Variant report

Variant	rs73089723
Chromosome Location	chr12:44433701-44433702
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44433437..44434185-chr7:139305396..139306017,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10736018	0.81[EUR][1000 genomes]
rs10785492	0.81[EUR][1000 genomes]
rs10880616	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10880617	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11182375	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182384	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182385	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182396	0.86[EUR][1000 genomes]
rs11182402	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11182404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099769	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230287	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296857	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12313365	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1565620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094013	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1976211	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407788	0.81[EUR][1000 genomes]
rs3929354	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756710	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227915	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56337317	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6582494	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6582495	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73087684	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087700	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73091745	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7312422	0.81[EUR][1000 genomes]
rs7959226	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980005	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919742	0.80[AMR][1000 genomes];1.00[ASN][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44422200-44437800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:44423200-44434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:44423400-44447000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:44429000-44446800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44430200-44440400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:44430400-44439600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:44431000-44437200	Weak transcription	Fetal Stomach	stomach
9	chr12:44431400-44446400	Weak transcription	Gastric	stomach
10	chr12:44431800-44436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:44432000-44436800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:44432200-44437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:44432400-44446400	Weak transcription	Left Ventricle	heart
14	chr12:44432600-44437200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:44432600-44441000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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