Variant report

Variant	rs13147942
Chromosome Location	chr4:87780869-87780870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10029698	0.93[EUR][1000 genomes]
rs10034541	0.88[EUR][1000 genomes]
rs1075989	0.89[EUR][1000 genomes]
rs12186239	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13103212	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13114907	0.83[EUR][1000 genomes]
rs13117826	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13131035	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13131194	0.90[EUR][1000 genomes]
rs13134746	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13143520	0.86[EUR][1000 genomes]
rs13147739	0.90[EUR][1000 genomes]
rs13151671	0.93[EUR][1000 genomes]
rs13151797	0.92[EUR][1000 genomes]
rs13434404	0.88[EUR][1000 genomes]
rs2705623	1.00[EUR][1000 genomes]
rs28407685	0.93[EUR][1000 genomes]
rs28439108	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28447475	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28457189	0.88[EUR][1000 genomes]
rs28458234	0.88[EUR][1000 genomes]
rs28502831	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28594717	0.90[EUR][1000 genomes]
rs28610346	0.93[EUR][1000 genomes]
rs28620528	0.86[EUR][1000 genomes]
rs28629974	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28661703	0.94[EUR][1000 genomes]
rs28664715	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28706796	0.90[EUR][1000 genomes]
rs28729679	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28854225	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28886889	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34991149	0.88[EUR][1000 genomes]
rs35480728	0.86[EUR][1000 genomes]
rs35667731	0.90[EUR][1000 genomes]
rs36053558	0.89[EUR][1000 genomes]
rs4693788	0.88[EUR][1000 genomes]
rs71605624	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71605686	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71605687	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71605688	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71605691	0.93[EUR][1000 genomes]
rs71605693	0.86[EUR][1000 genomes]
rs7683045	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9993812	0.88[EUR][1000 genomes]
rs9999001	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87771600-87785600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:87779200-87798400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:87779600-87786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:87780600-87782200	Enhancers	Fetal Intestine Large	intestine
5	chr4:87780800-87781400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:87780800-87781600	Enhancers	Stomach Mucosa	stomach

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