Variant report

Variant	rs1990691
Chromosome Location	chr4:63006188-63006189
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr4:63005971-63006462	HL-60	blood:	n/a	n/a
2	SPI1	chr4:63005989-63006320	HL-60	blood:	n/a	n/a
3	SPI1	chr4:63006087-63006301	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000248692	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10008066	0.92[EUR][1000 genomes]
rs10009372	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10027730	0.93[ASN][1000 genomes]
rs10033607	0.94[EUR][1000 genomes]
rs11930426	0.94[EUR][1000 genomes]
rs11944228	0.94[EUR][1000 genomes]
rs12500654	0.94[EUR][1000 genomes]
rs12507188	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12511066	0.87[EUR][1000 genomes]
rs13121574	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17226468	0.80[ASN][1000 genomes]
rs2216195	0.93[EUR][1000 genomes]
rs2287146	0.82[AMR][1000 genomes]
rs28615650	0.88[EUR][1000 genomes]
rs28661220	0.87[EUR][1000 genomes]
rs28819240	0.94[EUR][1000 genomes]
rs4277807	0.88[EUR][1000 genomes]
rs4282218	0.89[EUR][1000 genomes]
rs4860451	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6551676	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6551680	0.92[EUR][1000 genomes]
rs6551681	0.92[EUR][1000 genomes]
rs6810664	0.93[EUR][1000 genomes]
rs6827497	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6833025	0.94[EUR][1000 genomes]
rs6836463	0.88[EUR][1000 genomes]
rs6848354	0.94[EUR][1000 genomes]
rs6857895	0.94[EUR][1000 genomes]
rs7657624	0.84[EUR][1000 genomes]
rs7662331	0.90[EUR][1000 genomes]
rs7664142	0.88[EUR][1000 genomes]
rs7671439	0.88[EUR][1000 genomes]
rs7677634	0.92[EUR][1000 genomes]
rs7682584	0.92[EUR][1000 genomes]
rs7692875	0.89[EUR][1000 genomes]
rs7695511	0.88[EUR][1000 genomes]
rs7697748	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs950313	0.93[EUR][1000 genomes]
rs9995712	0.88[EUR][1000 genomes]
rs9999509	0.94[EUR][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	nsv879078	chr4:62923797-63054757	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv594332	chr4:62976756-63034074	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1005620	chr4:62978115-63035387	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1013327	chr4:62989426-63149048	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:63003600-63008000	Weak transcription	Fetal Heart	heart
2	chr4:63004400-63011200	Weak transcription	Right Ventricle	heart
3	chr4:63005000-63011200	Weak transcription	Left Ventricle	heart

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