Variant report

Variant	rs12419519
Chromosome Location	chr11:56692137-56692138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501360	0.84[AMR][1000 genomes]
rs12420673	0.82[AMR][1000 genomes]
rs12421627	0.82[AMR][1000 genomes]
rs12575372	0.87[AMR][1000 genomes]
rs12575387	0.84[AMR][1000 genomes]
rs12576168	0.84[AMR][1000 genomes]
rs12576184	0.82[AMR][1000 genomes]
rs12576591	0.82[AMR][1000 genomes]
rs12577285	0.82[AMR][1000 genomes]
rs12786654	0.82[AMR][1000 genomes]
rs12795509	0.82[AMR][1000 genomes]
rs12800063	0.84[AMR][1000 genomes]
rs1631138	0.82[AMR][1000 genomes]
rs17151364	0.82[AMR][1000 genomes]
rs17151369	0.84[AMR][1000 genomes]
rs17151375	0.84[AMR][1000 genomes]
rs1792479	0.82[AMR][1000 genomes]
rs1792523	0.82[AMR][1000 genomes]
rs1792524	0.82[AMR][1000 genomes]
rs1792525	0.82[AMR][1000 genomes]
rs1792526	0.82[AMR][1000 genomes]
rs1792527	0.82[AMR][1000 genomes]
rs1793425	0.84[AMR][1000 genomes]
rs1793429	0.82[AMR][1000 genomes]
rs1793436	0.82[AMR][1000 genomes]
rs1793441	0.82[AMR][1000 genomes]
rs1793445	0.82[AMR][1000 genomes]
rs1945575	0.84[AMR][1000 genomes]
rs34175469	0.84[AMR][1000 genomes]
rs35131429	0.84[AMR][1000 genomes]
rs35614891	0.84[AMR][1000 genomes]
rs4480561	0.84[AMR][1000 genomes]
rs4628689	0.82[AMR][1000 genomes]
rs4633488	0.82[AMR][1000 genomes]
rs7102425	0.82[AMR][1000 genomes]
rs7113214	0.82[AMR][1000 genomes]
rs7128426	0.84[AMR][1000 genomes]
rs71495236	0.82[AMR][1000 genomes]
rs7926761	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468577	chr11:56503728-56704042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv555101	chr11:56503728-56704042	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv469960	chr11:56605222-56704042	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1045889	chr11:56624365-56737435	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv520375	chr11:56669830-56704042	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
6	esv1223921	chr11:56692132-56692144	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56690000-56692400	Enhancers	NHEK	skin
2	chr11:56691400-56699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:56691800-56699800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:56692000-56699800	Weak transcription	HMEC	breast

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