Variant report

Variant	rs2263407
Chromosome Location	chr11:18153093-18153094
allele	G/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	chr11:18152983-18153256	A549	lung:	n/a	n/a
2	CEBPB	chr11:18153079-18153202	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:18153050-18153193	K562	blood:	n/a	n/a
4	FOXA1	chr11:18152573-18153151	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:18152991-18153228	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr11:18152988-18153271	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:18152968-18153327	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18152566..18154757-chr11:18415660..18417661,2	K562	blood:

Variant related genes	Relation type
MRGPRX3	TF binding region
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10500831	0.88[ASN][1000 genomes]
rs10832882	0.88[ASN][1000 genomes]
rs11024468	0.88[ASN][1000 genomes]
rs11024476	0.88[ASN][1000 genomes]
rs11024482	0.86[ASN][1000 genomes]
rs11024484	0.88[ASN][1000 genomes]
rs11024493	0.86[ASN][1000 genomes]
rs11024496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12363226	0.88[ASN][1000 genomes]
rs12364327	0.88[ASN][1000 genomes]
rs12792460	0.81[ASN][1000 genomes]
rs1824017	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1840595	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1975777	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445162	0.82[ASN][1000 genomes]
rs2468832	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2468841	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35447333	0.81[ASN][1000 genomes]
rs4052539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4274188	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5790015	0.88[ASN][1000 genomes]
rs61882530	0.88[ASN][1000 genomes]
rs7131255	0.88[ASN][1000 genomes]
rs7131454	0.88[ASN][1000 genomes]
rs7933259	0.85[ASN][1000 genomes]
rs7934091	0.88[ASN][1000 genomes]
rs7943725	0.85[ASN][1000 genomes]
rs907923	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv982925	chr11:18132176-18153921	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv11709	chr11:18138662-18200717	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2263407	MRGPRX3	cis	Esophagus Mucosa	GTEx
rs2263407	SAAL1	cis	Skin Sun Exposed Lower leg	GTEx
rs2263407	SAAL1	cis	lung	GTEx
rs2263407	SAAL1	cis	Artery Tibial	GTEx
rs2263407	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs2263407	MRGPRX3	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18150400-18156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18151800-18154200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:18152400-18154600	Enhancers	HepG2	liver

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