Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24483355..24485478-chr6:24495554..24497195,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10946703	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1111013	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1111014	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11758106	0.81[EUR][1000 genomes]
rs11759284	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12208521	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13218564	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1810473	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2076316	0.81[AFR][1000 genomes]
rs2760139	0.83[AFR][1000 genomes]
rs2817208	0.83[AFR][1000 genomes]
rs2817209	0.83[AFR][1000 genomes]
rs2817212	0.86[AFR][1000 genomes]
rs34052391	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34517349	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35864956	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646828	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4712825	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62400473	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62400494	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9467194	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763542	chr6:24445131-24520637	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv519552	chr6:24451256-24524704	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv883480	chr6:24481299-24507519	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9461028	ALDH5A1	cis	Muscle Skeletal	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:24447400-24490400	Weak transcription	Brain Anterior Caudate	brain
3	chr6:24448800-24488000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:24458600-24489000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:24458800-24492800	Weak transcription	Thymus	Thymus
6	chr6:24458800-24494000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:24470600-24494600	Weak transcription	Left Ventricle	heart
8	chr6:24472600-24489400	Weak transcription	HepG2	liver
9	chr6:24473000-24494600	Weak transcription	Ovary	ovary
10	chr6:24479600-24490200	Weak transcription	Hela-S3	cervix
11	chr6:24480400-24493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:24481600-24484600	Weak transcription	Liver	Liver
13	chr6:24483200-24484800	Weak transcription	Brain Angular Gyrus	brain
14	chr6:24483800-24494000	Weak transcription	Brain Inferior Temporal Lobe	brain

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