Variant report

Variant	rs12118267
Chromosome Location	chr1:192932818-192932819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10754036	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10801165	0.83[AMR][1000 genomes]
rs10921299	0.83[AMR][1000 genomes]
rs10921300	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11507869	0.80[EUR][1000 genomes]
rs11507871	0.85[AMR][1000 genomes]
rs11507872	0.85[AMR][1000 genomes]
rs12117621	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12124274	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12125252	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12132131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12133193	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12133295	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12138298	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143913	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1339591	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17525308	0.94[EUR][1000 genomes]
rs2486496	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35686688	0.89[EUR][1000 genomes]
rs6680068	0.95[EUR][1000 genomes]
rs6701258	0.85[AMR][1000 genomes]
rs72738564	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72738565	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72738572	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72738574	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72738576	0.83[AMR][1000 genomes]
rs72738577	0.85[AMR][1000 genomes]
rs72738582	0.85[AMR][1000 genomes]
rs7415619	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs842805	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs842815	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192922400-192941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:192932800-192933000	ZNF genes & repeats	Psoas Muscle	Psoas

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