Variant report

Variant	rs1491694
Chromosome Location	chr3:70088734-70088735
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:70048665..70050318-chr3:70087653..70089524,2	K562	blood:

Variant related genes	Relation type
ENSG00000240405	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1027234	0.80[ASN][1000 genomes]
rs10510994	0.82[ASN][1000 genomes]
rs11923982	0.81[ASN][1000 genomes]
rs12495615	0.82[ASN][1000 genomes]
rs1491696	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1491697	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1491700	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17729465	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17729489	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17785152	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs17785756	0.85[CEU][hapmap];0.82[CHB][hapmap];0.96[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2101636	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2874269	0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3849467	0.82[AMR][1000 genomes]
rs4855334	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4855335	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55966844	0.85[ASN][1000 genomes]
rs60251138	0.83[ASN][1000 genomes]
rs60403843	0.86[ASN][1000 genomes]
rs60647884	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61645126	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6549267	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6763730	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6799525	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7611660	0.81[CHB][hapmap];0.83[YRI][hapmap]
rs7619924	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7632596	0.83[ASN][1000 genomes]
rs7645353	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7649560	0.85[CEU][hapmap];0.94[YRI][hapmap]
rs7651972	0.87[ASN][1000 genomes]
rs9310181	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9809122	0.80[AMR][1000 genomes]
rs9815027	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9818798	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9826811	0.80[AMR][1000 genomes]
rs9837453	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9840951	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9843867	0.81[AMR][1000 genomes]
rs9856462	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1491694	RP11-460N16.1	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70063800-70098000	Weak transcription	Aorta	Aorta
2	chr3:70086800-70089200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:70088600-70089600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:70088600-70089600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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