Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:166876950-166877517	HL-60	blood:	n/a	chr1:166877223-166877232 chr1:166877217-166877230 chr1:166877219-166877228
2	SPI1	chr1:166877055-166877525	GM12878	blood:	n/a	chr1:166877223-166877232 chr1:166877217-166877230 chr1:166877219-166877228

Variant related genes	Relation type
ENSG00000237096	TF binding region

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

rs_ID	r²[population]
rs1053407	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10800271	0.86[EUR][1000 genomes]
rs10800275	0.85[EUR][1000 genomes]
rs11582566	0.92[EUR][1000 genomes]
rs2013526	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2014854	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2072741	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2075982	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2312238	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs393025	0.82[AMR][1000 genomes]
rs402031	0.84[AMR][1000 genomes]
rs453395	0.85[AMR][1000 genomes]
rs4657614	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6427038	0.92[EUR][1000 genomes]
rs6427046	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6688277	0.97[EUR][1000 genomes]
rs6690192	0.93[EUR][1000 genomes]
rs7532247	0.87[EUR][1000 genomes]
rs7552562	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs926266	0.80[AMR][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2837	MAEL	cis	Nerve Tibial	GTEx
rs2837	MAEL	cis	Thyroid	GTEx
rs2837	DUTP6	cis	Esophagus Muscularis	GTEx
rs2837	MAEL	cis	Esophagus Muscularis	GTEx
rs2837	DUTP6	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166875600-166878400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:166875600-166880000	Weak transcription	NHEK	skin
3	chr1:166875800-166878800	Enhancers	Placenta	Placenta
4	chr1:166875800-166880000	Weak transcription	HMEC	breast
5	chr1:166876400-166877800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:166876400-166889400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:166876800-166877600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:166876800-166878400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:166876800-166889400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:166877000-166877600	Enhancers	GM12878-XiMat	blood
11	chr1:166877000-166877800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:166877000-166877800	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:166877200-166878600	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:166877200-166883200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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