Variant report

Variant	rs11723162
Chromosome Location	chr4:54635758-54635759
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1013508	0.89[ASN][1000 genomes]
rs1013509	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11133287	0.89[ASN][1000 genomes]
rs11721806	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11731952	0.85[ASN][1000 genomes]
rs11734520	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12646885	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1498815	0.86[ASN][1000 genomes]
rs1498816	0.86[ASN][1000 genomes]
rs1498829	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1874915	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2102011	0.86[ASN][1000 genomes]
rs2412491	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412492	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2412496	0.89[ASN][1000 genomes]
rs2412498	0.83[EUR][1000 genomes]
rs2412500	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2616431	0.80[ASN][1000 genomes]
rs2616433	0.80[ASN][1000 genomes]
rs4495107	0.81[ASN][1000 genomes]
rs4501282	0.88[ASN][1000 genomes]
rs4561980	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4864821	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56061807	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59481386	0.82[ASN][1000 genomes]
rs60681996	0.86[ASN][1000 genomes]
rs61202300	0.82[ASN][1000 genomes]
rs62297730	0.86[ASN][1000 genomes]
rs62297732	0.86[ASN][1000 genomes]
rs67780867	0.89[ASN][1000 genomes]
rs6819547	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6819611	0.88[ASN][1000 genomes]
rs6827313	0.88[ASN][1000 genomes]
rs6827952	0.83[ASN][1000 genomes]
rs6828755	0.83[ASN][1000 genomes]
rs6834410	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6837405	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6837817	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6842213	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6842407	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6842780	0.82[ASN][1000 genomes]
rs6843127	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6845180	0.84[ASN][1000 genomes]
rs6845286	0.86[ASN][1000 genomes]
rs6846594	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6850939	0.86[ASN][1000 genomes]
rs6854881	0.85[ASN][1000 genomes]
rs6858638	0.82[ASN][1000 genomes]
rs7655896	0.82[ASN][1000 genomes]
rs7676596	0.82[ASN][1000 genomes]
rs7686706	0.89[ASN][1000 genomes]
rs7688892	0.85[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	nsv879015	chr4:54596466-54665559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv527672	chr4:54626228-54637201	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11723162	SLC1A5	trans	brain	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54630800-54635800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:54631000-54635800	Enhancers	Osteobl	bone
3	chr4:54631600-54636200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:54631800-54635800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:54631800-54635800	Enhancers	NHDF-Ad	bronchial
6	chr4:54631800-54637200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:54633000-54636000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:54633400-54643200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:54635000-54635800	Enhancers	NHLF	lung
10	chr4:54635000-54638800	Enhancers	Fetal Stomach	stomach
11	chr4:54635200-54635800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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