Variant report

Variant	rs4779034
Chromosome Location	chr15:83245549-83245550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83233938..83235753-chr15:83244078..83245839,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13379724	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs1431716	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17158396	0.81[EUR][1000 genomes]
rs17158403	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17356118	0.87[CEU][hapmap]
rs17507216	0.87[CEU][hapmap]
rs28582623	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28587782	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28676810	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28833239	0.93[EUR][1000 genomes]
rs28877110	0.93[EUR][1000 genomes]
rs28888975	0.91[EUR][1000 genomes]
rs3970696	0.82[YRI][hapmap]
rs4513065	0.85[CEU][hapmap]
rs4779033	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4779035	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7161977	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7165690	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs72751657	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751662	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72751675	0.97[EUR][1000 genomes]
rs783521	0.83[YRI][hapmap]
rs8040488	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427965	chr15:82741381-83310525	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv428309	chr15:82741381-83310525	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2758391	chr15:82879646-83310525	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	esv2760046	chr15:82879646-83310525	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833071	chr15:83123646-83310510	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs4779034	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx
rs4779034	AP3B2	cis	Artery Tibial	GTEx
rs4779034	RP11-152F13.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4779034	AP3B2	cis	Esophagus Muscularis	GTEx
rs4779034	AP3B2	cis	Nerve Tibial	GTEx
rs4779034	AP3B2	cis	Whole Blood	GTEx
rs4779034	AP3B2	cis	Thyroid	GTEx
rs4779034	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs4779034	AP3B2	cis	Skin Sun Exposed Lower leg	GTEx
rs4779034	AP3B2	cis	lung	GTEx
rs4779034	AP3B2	cis	Esophagus Mucosa	GTEx
rs4779034	RP11-152F13.3	cis	lung	GTEx
rs4779034	AP3B2	cis	Adipose Subcutaneous	GTEx
rs4779034	AP3B2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83241400-83248400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:83241800-83297600	Weak transcription	Brain Inferior Temporal Lobe	brain

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