Variant report

Variant	rs5753576
Chromosome Location	chr22:31757735-31757736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31756408..31758509-chr22:31763975..31766005,2	MCF-7	breast:
2	chr22:31740831..31745371-chr22:31755753..31759335,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11703927	0.89[EUR][1000 genomes]
rs12166373	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12167361	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13053245	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13058363	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs131200	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs131202	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs131209	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs131213	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs131219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140074	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140077	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2009132	0.87[EUR][1000 genomes]
rs2013254	0.89[EUR][1000 genomes]
rs2413048	0.88[EUR][1000 genomes]
rs28523714	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28715	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28716	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28813120	0.84[EUR][1000 genomes]
rs35955747	0.81[EUR][1000 genomes]
rs4820045	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4820961	0.89[EUR][1000 genomes]
rs4820969	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753558	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5994397	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997909	0.83[EUR][1000 genomes]
rs5997919	0.84[EUR][1000 genomes]
rs5997929	0.89[EUR][1000 genomes]
rs5997932	0.87[EUR][1000 genomes]
rs5997938	0.89[EUR][1000 genomes]
rs5997960	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5997971	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5997980	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5997981	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6518745	0.84[EUR][1000 genomes]
rs713947	0.87[EUR][1000 genomes]
rs7285171	0.83[EUR][1000 genomes]
rs7287402	0.89[EUR][1000 genomes]
rs7288643	0.89[EUR][1000 genomes]
rs7288735	0.89[EUR][1000 genomes]
rs7289189	0.89[EUR][1000 genomes]
rs7289337	0.89[EUR][1000 genomes]
rs739427	0.88[EUR][1000 genomes]
rs8141987	0.81[EUR][1000 genomes]
rs8143002	0.81[EUR][1000 genomes]
rs926928	0.87[EUR][1000 genomes]
rs9606835	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9619187	0.88[EUR][1000 genomes]
rs9621216	0.83[EUR][1000 genomes]
rs9621221	0.84[EUR][1000 genomes]
rs9621227	0.88[EUR][1000 genomes]
rs9621255	0.85[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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3325569	chr22:31757399-31757787	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5753576	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31744000-31762200	Weak transcription	Right Atrium	heart
2	chr22:31756400-31763800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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