Variant report

Variant	rs8090830
Chromosome Location	chr18:12388057-12388058
allele	C/T
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:17)

rs_ID	r²[population]
rs1078387	0.87[ASN][1000 genomes]
rs11080574	0.91[YRI][hapmap]
rs11661684	0.81[AMR][1000 genomes]
rs11662319	0.82[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11663190	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11663554	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11663572	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11664991	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11665201	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs11873521	0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16973056	0.82[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs16977167	0.82[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs531635	0.92[ASN][1000 genomes]
rs55954809	0.87[ASN][1000 genomes]
rs56658240	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs71371253	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72875338	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS 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 target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr18:12384600-12391600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:12384600-12391600	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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