Variant report

Variant	rs566736
Chromosome Location	chr13:30197709-30197710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2263207	0.81[ASN][1000 genomes]
rs2669028	0.98[ASN][1000 genomes]
rs2776418	0.98[ASN][1000 genomes]
rs280905	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs280907	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs280908	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs280941	0.95[ASN][1000 genomes]
rs280942	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs280943	0.98[ASN][1000 genomes]
rs280944	0.99[ASN][1000 genomes]
rs280945	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs482876	0.99[ASN][1000 genomes]
rs489679	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs517178	0.98[ASN][1000 genomes]
rs524368	0.82[ASN][1000 genomes]
rs529739	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs535141	0.82[ASN][1000 genomes]
rs538385	0.81[ASN][1000 genomes]
rs550984	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs563630	0.82[ASN][1000 genomes]
rs570095	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs571899	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs590377	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs605443	0.81[AFR][1000 genomes]
rs606753	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs630273	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs648326	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs819400	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs819401	0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs9506207	0.91[ASN][1000 genomes]
rs9508515	0.91[ASN][1000 genomes]
rs9551710	0.93[ASN][1000 genomes]
rs9551714	0.82[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	nsv528336	chr13:30194288-30226498	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs566736	SLC7A1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30195000-30198800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:30195800-30198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:30197000-30199000	Weak transcription	Osteobl	bone

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