Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:175841714-175842091	SH-SY5Y	brain:	n/a	chr1:175841842-175841852
2	GATA3	chr1:175841773-175841923	SH-SY5Y	brain:	n/a	chr1:175841842-175841852

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175836721..175839174-chr1:175839948..175842188,2	K562	blood:
2	chr1:175840723..175842476-chr1:175845280..175846892,2	K562	blood:

Variant related genes	Relation type
ENSG00000224718	TF binding region
ENSG00000224718	Chromatin interaction

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10913091	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12117735	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1361521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849285	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16849286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs478276	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs500894	0.90[EUR][1000 genomes]
rs524684	0.83[EUR][1000 genomes]
rs72711130	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7517760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522255	chr1:175827683-175849898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175831600-175842000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr1:175835600-175848200	Weak transcription	Aorta	Aorta
3	chr1:175836000-175841800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:175836000-175845400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:175837400-175843200	Enhancers	Brain Substantia Nigra	brain
6	chr1:175838000-175842000	Enhancers	Brain Angular Gyrus	brain
7	chr1:175838600-175845600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:175838800-175847400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:175839800-175842200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:175839800-175845600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:175839800-175845600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:175840200-175842400	Enhancers	Fetal Heart	heart
13	chr1:175841000-175842200	Enhancers	Fetal Muscle Leg	muscle
14	chr1:175841200-175841800	Enhancers	Brain Hippocampus Middle	brain
15	chr1:175841400-175842600	Weak transcription	Brain Anterior Caudate	brain
16	chr1:175841400-175842800	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:175841400-175844200	Weak transcription	Right Ventricle	heart
18	chr1:175841600-175841800	Enhancers	Fetal Lung	lung
19	chr1:175841600-175846200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:175841600-175846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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