Variant report

Variant	rs17158403
Chromosome Location	chr15:83241228-83241229
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:83239563-83241354	SK-N-SH	brain:	n/a	n/a
2	MAZ	chr15:83239241-83241683	IMR90	lung:	n/a	n/a
3	ZNF263	chr15:83239839-83241557	HEK293-T-REx	kidney:	n/a	chr15:83241307-83241316 chr15:83240612-83240633 chr15:83240614-83240623
4	RCOR1	chr15:83240481-83241333	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83238387..83241317-chr15:83241503..83245353,3	K562	blood:
2	chr15:83241058..83243039-chr15:83367492..83370195,2	K562	blood:

Variant related genes	Relation type
CPEB1	TF binding region
ENSG00000103723	Chromatin interaction
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1431716	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs17158396	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs17356118	0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28582623	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28587782	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28648832	0.80[AFR][1000 genomes]
rs28676810	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28833239	0.90[EUR][1000 genomes]
rs28877110	0.90[EUR][1000 genomes]
rs28888975	0.87[EUR][1000 genomes]
rs4779033	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4779034	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4779035	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7161977	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7165690	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs72751657	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72751662	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72751675	0.94[EUR][1000 genomes]
rs783539	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs17158403	AP3B2	cis	Nerve Tibial	GTEx
rs17158403	AP3B2	cis	lung	GTEx
rs17158403	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx
rs17158403	AP3B2	cis	Esophagus Muscularis	GTEx
rs17158403	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs17158403	RP11-152F13.3	cis	Skin Sun Exposed Lower leg	GTEx
rs17158403	AP3B2	cis	Thyroid	GTEx
rs17158403	AP3B2	cis	Skin Sun Exposed Lower leg	GTEx
rs17158403	AP3B2	cis	Adipose Subcutaneous	GTEx
rs17158403	AP3B2	cis	Whole Blood	GTEx
rs17158403	RP11-152F13.3	cis	lung	GTEx
rs17158403	AP3B2	cis	Artery Tibial	GTEx
rs17158403	AP3B2	cis	Muscle Skeletal	GTEx
rs17158403	AP3B2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83236000-83243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:83239400-83241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:83239600-83241400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:83240000-83243000	Enhancers	K562	blood
5	chr15:83240400-83241600	Enhancers	Esophagus	oesophagus
6	chr15:83240800-83241400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr15:83240800-83241400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:83240800-83241400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:83240800-83241600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr15:83240800-83241600	Enhancers	Pancreas	Pancrea
11	chr15:83240800-83242000	Enhancers	Spleen	Spleen
12	chr15:83241000-83241400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr15:83241000-83241400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:83241000-83241400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:83241000-83241400	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr15:83241000-83241400	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr15:83241000-83241400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:83241000-83241400	Enhancers	Colon Smooth Muscle	Colon
19	chr15:83241000-83241400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr15:83241000-83241400	Bivalent Enhancer	Fetal Stomach	stomach
21	chr15:83241000-83241400	Enhancers	Ovary	ovary
22	chr15:83241000-83241400	Enhancers	Right Atrium	heart
23	chr15:83241000-83241400	Enhancers	HSMMtube	muscle
24	chr15:83241000-83241600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr15:83241000-83241600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr15:83241000-83241600	Enhancers	Right Ventricle	heart
27	chr15:83241000-83241800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:83241000-83242000	Enhancers	Brain Germinal Matrix	brain
29	chr15:83241200-83241400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:83241200-83241400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:83241200-83241400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:83241200-83241400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:83241200-83241400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
34	chr15:83241200-83241400	Enhancers	Rectal Smooth Muscle	rectum
35	chr15:83241200-83241400	Enhancers	Osteobl	bone
36	chr15:83241200-83241600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:83241200-83241600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:83241200-83241600	Enhancers	Fetal Lung	lung
39	chr15:83241200-83241600	Enhancers	Stomach Smooth Muscle	stomach
40	chr15:83241200-83241600	Enhancers	NHDF-Ad	bronchial
41	chr15:83241200-83241800	Enhancers	Brain Anterior Caudate	brain
42	chr15:83241200-83241800	Enhancers	Brain Hippocampus Middle	brain
43	chr15:83241200-83241800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr15:83241200-83241800	Enhancers	Brain Substantia Nigra	brain

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