Variant report

No.	Distal block	Cell Line	Cell type
1	chr9:100649531..100652518-chr9:100653450..100655843,2	MCF-7	breast:
2	chr9:100648546..100652838-chr9:100654754..100658082,3	K562	blood:
3	chr9:100641121..100643077-chr9:100648221..100651818,3	MCF-7	breast:
4	chr9:100648000..100649701-chr9:100650318..100652394,2	MCF-7	breast:
5	chr9:100637402..100640995-chr9:100649849..100652626,3	MCF-7	breast:

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

rs_ID	r²[population]
rs10113907	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10119795	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10818239	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10984193	0.86[ASN][1000 genomes]
rs11999801	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12003789	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12238579	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13300874	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13301569	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1561958	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1561959	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17346310	0.86[ASN][1000 genomes]
rs4743140	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62574034	0.86[ASN][1000 genomes]
rs62574035	0.86[ASN][1000 genomes]
rs6478450	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6586	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67449879	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67500034	0.86[ASN][1000 genomes]
rs7020644	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7033315	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7040232	0.82[ASN][1000 genomes]
rs7357707	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7853349	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs874004	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7870125	C9orf156	cis	Thyroid	GTEx
rs7870125	C9orf156	cis	Skin Sun Exposed Lower leg	GTEx
rs7870125	C9orf156	cis	Esophagus Muscularis	GTEx
rs7870125	FOXE1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100637600-100658000	Weak transcription	Gastric	stomach
2	chr9:100637800-100652800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:100649600-100651000	Enhancers	NHEK	skin
4	chr9:100649600-100651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:100650200-100651600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:100650400-100652200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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