Variant report

Variant	rs56220340
Chromosome Location	chr8:39729252-39729253
allele	C/T
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	GATA2	chr8:39729194-39730046	HUVEC	blood vessel:	n/a	n/a
2	NR3C1	chr8:39729241-39729598	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000253233	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11780178	1.00[ASN][1000 genomes]
rs12675176	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675538	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676988	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12677195	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56013414	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56099501	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56333905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56402110	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62511247	0.83[AMR][1000 genomes]
rs62511257	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62511259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512561	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512566	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62512567	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62512568	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62512569	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62512570	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62512574	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62512629	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62512630	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72642874	0.87[AMR][1000 genomes]
rs72642876	0.82[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39728400-39730600	Enhancers	HUVEC	blood vessel
2	chr8:39728600-39730200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:39728600-39731400	Enhancers	Fetal Lung	lung
4	chr8:39729000-39730400	Enhancers	Ovary	ovary
5	chr8:39729200-39729400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:39729200-39729600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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