Variant report

Variant	rs11024493
Chromosome Location	chr11:18128834-18128835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18126132..18128998-chr11:18342491..18344042,2	K562	blood:
2	chr11:18013230..18013986-chr11:18128436..18129004,2	K562	blood:

Variant related genes	Relation type
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10500831	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832880	0.81[EUR][1000 genomes]
rs10832882	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024460	0.83[EUR][1000 genomes]
rs11024461	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024468	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024476	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024482	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024484	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024485	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024489	0.88[ASN][1000 genomes]
rs12363226	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12364327	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12792460	0.83[ASN][1000 genomes]
rs1975777	0.81[ASN][1000 genomes]
rs2168361	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2263407	0.86[ASN][1000 genomes]
rs2468832	0.80[ASN][1000 genomes]
rs2468841	0.86[ASN][1000 genomes]
rs2468842	0.86[ASN][1000 genomes]
rs2956631	0.84[ASN][1000 genomes]
rs35447333	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4052539	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5790015	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61882530	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117439	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7118373	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7131255	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7131454	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7929920	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7933259	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7934091	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7942794	0.89[EUR][1000 genomes]
rs7943725	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943884	0.85[EUR][1000 genomes]
rs907923	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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	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	nsv983174	chr11:18127720-18135636	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11024493	SAAL1	cis	lung	GTEx
rs11024493	SAAL1	cis	Adipose Subcutaneous	GTEx
rs11024493	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs11024493	SAAL1	cis	Skin Sun Exposed Lower leg	GTEx
rs11024493	SAAL1	cis	Esophagus Muscularis	GTEx
rs11024493	MRGPRX3	cis	Esophagus Mucosa	GTEx
rs11024493	SAAL1	cis	Artery Tibial	GTEx
rs11024493	SAAL1	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18128000-18129000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:18128000-18129000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:18128400-18137400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:18128800-18129000	Active TSS	Right Atrium	heart

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