Variant report

Variant	rs11168550
Chromosome Location	chr12:48786279-48786280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11168546	0.82[AMR][1000 genomes]
rs11168547	0.84[ASN][1000 genomes]
rs11834790	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11836243	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17123011	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4146339	0.80[AMR][1000 genomes]
rs4331150	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4332560	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4519134	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4573725	0.81[AMR][1000 genomes]
rs4592463	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760702	0.83[AMR][1000 genomes]
rs4760703	0.84[ASN][1000 genomes]
rs59872392	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60346212	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61324340	0.85[AMR][1000 genomes]
rs72644850	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72644851	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72644852	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72644853	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7973559	0.85[AMR][1000 genomes];0.88[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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48784200-48789800	Weak transcription	Aorta	Aorta
2	chr12:48784600-48788200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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