Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:138826935-138827312	MCF-7	breast:	n/a	n/a
2	GATA2	chr3:138826962-138827259	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138823926..138825824-chr3:138825892..138828740,2	K562	blood:
2	chr3:138826879..138827564-chr3:139048082..139048740,2	MCF-7	breast:

Variant related genes	Relation type
MRPS22	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1081429	0.85[ASN][1000 genomes]
rs1092455	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10935298	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12637621	0.92[EUR][1000 genomes]
rs1533134	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1849107	0.91[ASN][1000 genomes]
rs2202665	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs581530	1.00[ASN][1000 genomes]
rs584059	0.97[ASN][1000 genomes]
rs586043	0.97[ASN][1000 genomes]
rs599415	0.97[ASN][1000 genomes]
rs61151687	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs647078	0.87[ASN][1000 genomes]
rs647093	0.87[ASN][1000 genomes]
rs649829	0.87[ASN][1000 genomes]
rs663729	0.87[ASN][1000 genomes]
rs676102	0.97[ASN][1000 genomes]
rs68129305	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72978915	0.92[EUR][1000 genomes]
rs770978	0.88[ASN][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	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138820600-138839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138826400-138828400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:138826400-138830800	Weak transcription	Pancreas	Pancrea
4	chr3:138827000-138827400	Weak transcription	Liver	Liver

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