Variant report

Variant	rs4845399
Chromosome Location	chr1:154866093-154866094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154530611..154532941-chr1:154864890..154866826,3	K562	blood:
2	chr1:154862185..154864763-chr1:154865065..154866622,2	K562	blood:
3	chr1:154864032..154866672-chr1:154867262..154870131,3	K562	blood:

Variant related genes	Relation type
ENSG00000160714	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007170	0.85[EUR][1000 genomes]
rs10908446	0.82[ASN][1000 genomes]
rs10908447	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11264276	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11264281	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11264282	0.82[ASN][1000 genomes]
rs11264283	0.82[ASN][1000 genomes]
rs11264284	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12036859	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12130132	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12144978	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12406380	0.84[ASN][1000 genomes]
rs1580943	0.82[ASN][1000 genomes]
rs2135219	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335407	0.83[EUR][1000 genomes]
rs2335409	0.82[AMR][1000 genomes]
rs4845398	0.82[ASN][1000 genomes]
rs4845400	0.82[ASN][1000 genomes]
rs4845677	0.81[EUR][1000 genomes]
rs4845678	0.82[ASN][1000 genomes]
rs4845679	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4845680	0.82[ASN][1000 genomes]
rs4845681	0.86[EUR][1000 genomes]
rs4845682	0.81[ASN][1000 genomes]
rs4845683	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4845691	0.83[EUR][1000 genomes]
rs4845695	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58629129	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6656435	0.81[ASN][1000 genomes]
rs6674853	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72702224	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7528532	0.82[ASN][1000 genomes]
rs7531728	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7544528	0.83[EUR][1000 genomes]
rs869506	0.82[ASN][1000 genomes]
rs883718	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4845399	PBXIP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154862200-154868200	Weak transcription	K562	blood

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