Variant report

Variant	rs394655
Chromosome Location	chr18:11319232-11319233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16976089	0.85[ASN][1000 genomes]
rs376865	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs397147	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs405515	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs455369	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs455662	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs455675	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs457112	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs457234	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs457478	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs457630	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs457914	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs458813	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs459329	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs459799	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs460297	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs462136	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs464979	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs466179	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs466320	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs467394	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4796919	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4796920	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73402962	0.88[ASN][1000 genomes]
rs98452	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv833589	chr18:11293101-11454521	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 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	chr18:11310400-11320600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:11314000-11320000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:11316800-11320400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:11317000-11320200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:11318800-11323400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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