Variant report

Variant	rs17356118
Chromosome Location	chr15:83237899-83237900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83237529..83239820-chr15:83240454..83244037,3	MCF-7	breast:
2	chr15:83229558..83232531-chr15:83236614..83238235,2	K562	blood:
3	chr15:83236014..83238292-chr15:83349885..83351616,2	MCF-7	breast:
4	chr15:83234815..83238335-chr15:83239517..83241616,4	K562	blood:
5	chr15:83218421..83221235-chr15:83235743..83238150,2	K562	blood:

Variant related genes	Relation type
ENSG00000214575	Chromatin interaction
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10152762	1.00[ASN][1000 genomes]
rs17158403	0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17158413	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs17354185	1.00[ASN][1000 genomes]
rs17507216	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28470877	1.00[ASN][1000 genomes]
rs28587782	0.93[AFR][1000 genomes]
rs28648832	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28697264	1.00[ASN][1000 genomes]
rs28876157	1.00[ASN][1000 genomes]
rs3850610	0.88[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4778665	1.00[ASN][1000 genomes]
rs4779033	0.81[CEU][hapmap]
rs4779034	0.87[CEU][hapmap]
rs62009918	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010071	1.00[ASN][1000 genomes]
rs62011682	1.00[ASN][1000 genomes]
rs62011683	1.00[ASN][1000 genomes]
rs62011684	1.00[ASN][1000 genomes]
rs62011702	1.00[ASN][1000 genomes]
rs62011975	1.00[ASN][1000 genomes]
rs62012003	1.00[ASN][1000 genomes]
rs62012004	1.00[ASN][1000 genomes]
rs62012005	1.00[ASN][1000 genomes]
rs62012010	1.00[ASN][1000 genomes]
rs62012011	1.00[ASN][1000 genomes]
rs62012043	1.00[ASN][1000 genomes]
rs62012046	1.00[ASN][1000 genomes]
rs62012047	1.00[ASN][1000 genomes]
rs62012049	1.00[ASN][1000 genomes]
rs62012056	1.00[ASN][1000 genomes]
rs62012059	1.00[ASN][1000 genomes]
rs62013461	1.00[ASN][1000 genomes]
rs62013464	1.00[ASN][1000 genomes]
rs7165690	0.80[CEU][hapmap]
rs7179851	1.00[ASN][1000 genomes]
rs72751643	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7496227	1.00[ASN][1000 genomes]
rs783539	0.95[YRI][hapmap]
rs8026737	1.00[ASN][1000 genomes]

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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs17356118	AP3B2	cis	Skin Sun Exposed Lower leg	GTEx
rs17356118	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx
rs17356118	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs17356118	RP11-152F13.3	cis	lung	GTEx
rs17356118	AP3B2	cis	lung	GTEx
rs17356118	AP3B2	cis	Artery Tibial	GTEx
rs17356118	RP11-152F13.3	cis	Skin Sun Exposed Lower leg	GTEx
rs17356118	AP3B2	cis	Nerve Tibial	GTEx
rs17356118	AP3B2	cis	Muscle Skeletal	GTEx

Chromatin state (count:46 , 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	chr15:83222600-83239400	Weak transcription	Fetal Stomach	stomach
5	chr15:83222600-83239600	Weak transcription	Ovary	ovary
6	chr15:83222600-83239600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:83222800-83240600	Weak transcription	Aorta	Aorta
8	chr15:83223800-83239600	Weak transcription	Brain Substantia Nigra	brain
9	chr15:83224800-83239800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:83232200-83239400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:83232600-83239600	Weak transcription	Fetal Lung	lung
12	chr15:83234000-83238600	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:83234200-83238800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:83234400-83239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:83234400-83239800	Weak transcription	HSMMtube	muscle
16	chr15:83234600-83239600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:83234600-83239800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:83234600-83239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:83234800-83238800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:83234800-83239400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:83234800-83239400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:83234800-83239600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:83235800-83239400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:83235800-83239600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:83236000-83239200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:83236000-83239200	Weak transcription	NHLF	lung
27	chr15:83236000-83239400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:83236000-83239600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:83236000-83239600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:83236000-83239600	Weak transcription	NH-A	brain
31	chr15:83236000-83243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:83236200-83238600	Weak transcription	Osteobl	bone
33	chr15:83236200-83239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:83236400-83238200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:83236600-83238200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:83237000-83239400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr15:83237200-83238600	Weak transcription	NHDF-Ad	bronchial
38	chr15:83237200-83239200	Weak transcription	K562	blood
39	chr15:83237200-83239400	Active TSS	Brain Cingulate Gyrus	brain
40	chr15:83237200-83239600	Active TSS	Brain Angular Gyrus	brain
41	chr15:83237600-83238600	Active TSS	Brain Anterior Caudate	brain
42	chr15:83237600-83239600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:83237600-83239800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:83237800-83238000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:83237800-83238000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:83237800-83238000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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