Variant report

Variant	rs7544528
Chromosome Location	chr1:154844585-154844586
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	CEBPB	chr1:154844314-154844648	HepG2	liver:	n/a	chr1:154844484-154844495 chr1:154844482-154844493
2	CEBPB	chr1:154844321-154844648	K562	blood:	n/a	chr1:154844484-154844495 chr1:154844482-154844493
3	CEBPB	chr1:154844323-154844631	A549	lung:	n/a	chr1:154844484-154844495 chr1:154844482-154844493
4	CEBPB	chr1:154844305-154844642	IMR90	lung:	n/a	chr1:154844484-154844495 chr1:154844482-154844493

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:
2	chr1:154844363..154847365-chr1:154847993..154851967,4	K562	blood:

Variant related genes	Relation type
KCNN3	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1007170	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10796934	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10796935	0.86[ASN][1000 genomes]
rs10908444	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10908445	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10908446	0.91[ASN][1000 genomes]
rs10908447	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10908448	0.86[ASN][1000 genomes]
rs1109815	0.83[ASN][1000 genomes]
rs11264276	0.84[EUR][1000 genomes]
rs11264278	0.88[ASN][1000 genomes]
rs11264280	0.81[ASN][1000 genomes]
rs11264281	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11264282	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11264283	0.91[ASN][1000 genomes]
rs11264284	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11264290	0.83[ASN][1000 genomes]
rs12036859	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12069356	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12095061	0.83[ASN][1000 genomes]
rs12130132	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12144978	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1580943	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1976559	0.86[ASN][1000 genomes]
rs1977879	0.86[ASN][1000 genomes]
rs2061690	0.82[ASN][1000 genomes]
rs2102423	0.83[ASN][1000 genomes]
rs2135219	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2174507	0.86[ASN][1000 genomes]
rs2335407	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335408	0.83[ASN][1000 genomes]
rs2335409	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3738026	0.82[ASN][1000 genomes]
rs4240874	0.86[ASN][1000 genomes]
rs4240875	0.86[ASN][1000 genomes]
rs4339857	0.86[ASN][1000 genomes]
rs4845398	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845399	0.83[EUR][1000 genomes]
rs4845400	0.91[ASN][1000 genomes]
rs4845677	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845678	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845679	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845680	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845681	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845682	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4845683	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845685	0.82[ASN][1000 genomes]
rs4845687	0.87[ASN][1000 genomes]
rs4845688	0.86[ASN][1000 genomes]
rs4845689	0.86[ASN][1000 genomes]
rs4845690	0.86[ASN][1000 genomes]
rs4845691	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4845693	0.83[ASN][1000 genomes]
rs4845694	0.83[ASN][1000 genomes]
rs4845695	0.82[ASN][1000 genomes]
rs4845696	0.83[ASN][1000 genomes]
rs6656435	0.90[ASN][1000 genomes]
rs6656494	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6669791	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674853	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683557	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6686873	0.83[ASN][1000 genomes]
rs6699043	0.83[ASN][1000 genomes]
rs6699080	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs705094	0.82[ASN][1000 genomes]
rs72702224	0.83[ASN][1000 genomes]
rs7528532	0.91[ASN][1000 genomes]
rs7531728	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7553195	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs869506	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs877343	0.83[ASN][1000 genomes]
rs883718	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs906593	0.85[ASN][1000 genomes]
rs9793588	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv432964	chr1:154820067-154849590	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	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
9	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
rs7544528	PBXIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154843200-154845400	Weak transcription	K562	blood
2	chr1:154843200-154849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:154843200-154850800	Weak transcription	Ovary	ovary
4	chr1:154843200-154854200	Weak transcription	Fetal Kidney	kidney
5	chr1:154843200-154854200	Weak transcription	Right Atrium	heart
6	chr1:154843400-154845200	Weak transcription	Pancreas	Pancrea
7	chr1:154843400-154849800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:154843800-154849400	Weak transcription	A549	lung
9	chr1:154844000-154849600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:154844000-154850200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:154844400-154846400	Weak transcription	GM12878-XiMat	blood
12	chr1:154844400-154850800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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