Variant report

Variant	rs7252877
Chromosome Location	chr19:42342822-42342823
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42340672..42344473-chr19:42346449..42349067,4	K562	blood:
2	chr19:42337138..42340110-chr19:42342013..42344959,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142025	Chromatin interaction
ENSG00000267839	Chromatin interaction
ENSG00000183103	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10401928	0.81[ASN][1000 genomes]
rs10404939	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10407206	0.85[ASN][1000 genomes]
rs10407619	0.81[ASN][1000 genomes]
rs10407797	0.85[ASN][1000 genomes]
rs10410918	0.82[ASN][1000 genomes]
rs10414356	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10414823	0.88[ASN][1000 genomes]
rs10500284	0.94[ASN][1000 genomes]
rs12971550	0.85[AMR][1000 genomes]
rs12976571	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12979253	0.86[ASN][1000 genomes]
rs1457144	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1811564	0.81[ASN][1000 genomes]
rs1870093	0.94[ASN][1000 genomes]
rs2008798	0.81[ASN][1000 genomes]
rs2199830	0.82[ASN][1000 genomes]
rs2290695	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305809	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28821622	0.82[ASN][1000 genomes]
rs28824227	0.88[ASN][1000 genomes]
rs3922888	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4130852	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803511	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803512	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6508998	0.82[ASN][1000 genomes]
rs6508999	0.88[ASN][1000 genomes]
rs6509000	0.88[ASN][1000 genomes]
rs6509001	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6509002	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7248641	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7257666	0.81[ASN][1000 genomes]
rs8099934	0.82[ASN][1000 genomes]
rs8100182	0.81[ASN][1000 genomes]
rs8104958	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8106505	0.88[ASN][1000 genomes]
rs8110199	0.82[ASN][1000 genomes]
rs8113780	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899662	0.81[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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7252877	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42340400-42344600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:42340600-42344800	Weak transcription	Right Atrium	heart
3	chr19:42342400-42343800	Enhancers	K562	blood

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