Variant report

Variant	rs1414253
Chromosome Location	chr9:21755630-21755631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10119568	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10119693	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10121899	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10738598	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10738601	0.87[EUR][1000 genomes]
rs10757244	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10757257	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10811597	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10811598	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10811603	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10811608	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10965117	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10965133	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10965134	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10965135	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10965141	0.81[EUR][1000 genomes]
rs10965143	0.82[EUR][1000 genomes]
rs10965144	0.82[EUR][1000 genomes]
rs10965145	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12555601	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13298275	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1335503	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1335510	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335511	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341866	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1345020	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1345023	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1345024	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414243	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1561650	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2165409	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4265275	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7022754	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7023954	0.80[EUR][1000 genomes]
rs7029036	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7033879	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7038523	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7049092	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7863942	0.90[AMR][1000 genomes];0.90[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	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv892743	chr9:21675545-21772064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1026981	chr9:21748202-21811697	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21754400-21755800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:21755200-21758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:21755200-21758800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:21755400-21758200	Weak transcription	HMEC	breast
5	chr9:21755600-21757600	Weak transcription	NHEK	skin

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