Variant report

Variant	rs2168361
Chromosome Location	chr11:18140467-18140468
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	FOXA1	chr11:18140133-18140505	HepG2	liver:	n/a	n/a
2	EP300	chr11:18140067-18140522	HepG2	liver:	n/a	n/a
3	SP1	chr11:18140107-18140491	HepG2	liver:	n/a	n/a
4	FOXA1	chr11:18140087-18140510	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:18140044-18140518	HepG2	liver:	n/a	n/a
6	EP300	chr11:18140128-18140468	HepG2	liver:	n/a	n/a
7	TEAD4	chr11:18139984-18140537	HepG2	liver:	n/a	n/a
8	FOXA1	chr11:18140134-18140540	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18127466..18129015-chr11:18138742..18140750,2	K562	blood:

Variant related genes	Relation type
MRGPRX3	TF binding region
SAA3P	TF binding region
ENSG00000166788	Chromatin interaction
ENSG00000255254	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10500831	0.96[ASN][1000 genomes]
rs10832882	0.96[ASN][1000 genomes]
rs11024468	0.96[ASN][1000 genomes]
rs11024476	0.96[ASN][1000 genomes]
rs11024482	0.94[ASN][1000 genomes]
rs11024484	0.96[ASN][1000 genomes]
rs11024489	0.86[ASN][1000 genomes]
rs11024493	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12363226	0.96[ASN][1000 genomes]
rs12364327	0.96[ASN][1000 genomes]
rs12792460	0.81[ASN][1000 genomes]
rs1824017	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1840595	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1975777	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2263407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2468832	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2468841	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2468842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35447333	0.81[ASN][1000 genomes]
rs4052539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274188	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5790015	0.96[ASN][1000 genomes]
rs61882530	0.96[ASN][1000 genomes]
rs7131255	0.96[ASN][1000 genomes]
rs7131454	0.96[ASN][1000 genomes]
rs7933259	0.85[ASN][1000 genomes]
rs7934091	0.96[ASN][1000 genomes]
rs7943725	0.85[ASN][1000 genomes]
rs907923	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2168361	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs2168361	MRGPRX3	cis	Esophagus Mucosa	GTEx
rs2168361	SAAL1	cis	Artery Tibial	GTEx
rs2168361	SAAL1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18136600-18141600	Enhancers	HepG2	liver
2	chr11:18136800-18141600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:18137400-18141600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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