Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:168863643-168863954	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
SUMO1P2	TF binding region

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

rs_ID	r²[population]
rs12239491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12405834	1.00[EUR][1000 genomes]
rs12405968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407010	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322500	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13375532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861687	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59682281	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61567478	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74123029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123030	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123031	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123035	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123036	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525887	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7547710	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548313	0.92[ASN][1000 genomes]
rs7548404	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs857646	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168861800-168865200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:168862000-168865000	Enhancers	Fetal Lung	lung
3	chr1:168862400-168877000	Weak transcription	Fetal Heart	heart
4	chr1:168862600-168864000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:168863200-168865000	Weak transcription	Fetal Stomach	stomach
6	chr1:168863200-168867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:168863200-168867800	Weak transcription	NHEK	skin
8	chr1:168863200-168868000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:168863200-168868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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