Variant report

Variant	rs17158413
Chromosome Location	chr15:83235408-83235409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83230372..83232700-chr15:83234500..83237341,4	MCF-7	breast:
2	chr15:83233945..83235595-chr15:83736586..83738485,2	K562	blood:
3	chr15:83212827..83216127-chr15:83234244..83236895,3	MCF-7	breast:
4	chr15:83217974..83220864-chr15:83234820..83237093,3	MCF-7	breast:
5	chr15:83233152..83235673-chr15:83264929..83267672,2	MCF-7	breast:
6	chr15:83234815..83238335-chr15:83239517..83241616,4	K562	blood:
7	chr15:83223012..83224656-chr15:83233813..83235833,2	K562	blood:
8	chr15:83233938..83235753-chr15:83244078..83245839,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17356118	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs17507216	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2099259	0.85[YRI][hapmap]
rs28648832	0.85[EUR][1000 genomes]
rs3850610	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs62009918	0.85[EUR][1000 genomes]
rs72751643	0.85[EUR][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	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs17158413	AP3B2	cis	lung	GTEx
rs17158413	RP11-152F13.3	cis	Skin Sun Exposed Lower leg	GTEx
rs17158413	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs17158413	AP3B2	cis	Artery Tibial	GTEx
rs17158413	AP3B2	cis	Muscle Skeletal	GTEx
rs17158413	AP3B2	cis	Skin Sun Exposed Lower leg	GTEx
rs17158413	AP3B2	cis	Nerve Tibial	GTEx
rs17158413	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83219000-83239400	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:83219800-83239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:83222000-83239200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:83222200-83237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:83222600-83239400	Weak transcription	Fetal Stomach	stomach
6	chr15:83222600-83239600	Weak transcription	Ovary	ovary
7	chr15:83222600-83239600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:83222800-83240600	Weak transcription	Aorta	Aorta
9	chr15:83223800-83239600	Weak transcription	Brain Substantia Nigra	brain
10	chr15:83224800-83239800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:83232000-83235600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:83232200-83239400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:83232600-83239600	Weak transcription	Fetal Lung	lung
14	chr15:83233800-83236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:83233800-83237200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:83234000-83238600	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:83234200-83238800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:83234400-83236000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:83234400-83237600	Weak transcription	Brain Anterior Caudate	brain
20	chr15:83234400-83239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:83234400-83239800	Weak transcription	HSMMtube	muscle
22	chr15:83234600-83235600	Genic enhancers	Brain Angular Gyrus	brain
23	chr15:83234600-83236000	Enhancers	NH-A	brain
24	chr15:83234600-83236200	Enhancers	HepG2	liver
25	chr15:83234600-83239600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:83234600-83239800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:83234600-83239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:83234800-83236000	Enhancers	A549	lung
29	chr15:83234800-83236200	Enhancers	Osteobl	bone
30	chr15:83234800-83236400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:83234800-83238800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr15:83234800-83239400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:83234800-83239400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:83234800-83239600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:83235000-83235800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr15:83235000-83236000	Enhancers	NHLF	lung
37	chr15:83235000-83237200	Enhancers	NHDF-Ad	bronchial
38	chr15:83235200-83236000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:83235200-83236000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:83235200-83236000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr15:83235200-83236000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:83235200-83236200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:83235200-83237200	Genic enhancers	K562	blood
44	chr15:83235400-83235800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:83235400-83235800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr15:83235400-83236400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:83235400-83236800	Strong transcription	Brain Cingulate Gyrus	brain

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