Variant report

Variant	rs36111056
Chromosome Location	chr15:83461873-83461874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12899020	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12900374	0.85[AFR][1000 genomes]
rs12909628	0.87[AFR][1000 genomes]
rs12915294	0.82[EUR][1000 genomes]
rs12915384	0.90[AFR][1000 genomes]
rs1877240	0.92[AFR][1000 genomes]
rs35270670	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35946485	0.83[EUR][1000 genomes]
rs4617830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7178859	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs36111056	AP3B2	cis	lung	GTEx
rs36111056	HDGFRP3	Cis_1M	lymphoblastoid	RTeQTL
rs36111056	AP3B2	cis	Nerve Tibial	GTEx
rs36111056	AP3B2	cis	Adipose Subcutaneous	GTEx
rs36111056	AP3B2	cis	Thyroid	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83434800-83462200	Weak transcription	Ovary	ovary
2	chr15:83436400-83467800	Weak transcription	Psoas Muscle	Psoas
3	chr15:83440800-83468000	Weak transcription	Right Ventricle	heart
4	chr15:83450400-83477600	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:83455600-83467400	Weak transcription	Fetal Heart	heart
6	chr15:83456000-83468200	Weak transcription	Left Ventricle	heart
7	chr15:83456200-83464200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:83456200-83467800	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:83460400-83462200	Enhancers	NHEK	skin
10	chr15:83461000-83464200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:83461600-83465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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