Variant report

Variant	rs4778687
Chromosome Location	chr15:83317836-83317837
allele	C/T
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	chr15:83316185..83318129-chr15:83417608..83419750,3	K562	blood:
2	chr15:83315484..83318072-chr15:83348095..83350570,4	MCF-7	breast:
3	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
4	chr15:83316633..83319257-chr15:83348234..83350901,2	MCF-7	breast:
5	chr15:83317439..83319648-chr15:83417162..83421021,3	MCF-7	breast:
6	chr15:83315715..83320562-chr15:83347753..83351536,6	K562	blood:
7	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
8	chr15:83315603..83319675-chr15:83327659..83331605,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250988	Chromatin interaction
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1431716	0.82[EUR][1000 genomes]
rs28833239	0.82[EUR][1000 genomes]
rs28877110	0.82[EUR][1000 genomes]
rs35728728	0.80[AMR][1000 genomes]
rs7161977	0.82[EUR][1000 genomes]
rs7165690	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
3	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
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS 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
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS 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
11	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv3434026	chr15:83314547-83318195	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3360562	chr15:83315522-83318070	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs4778687	AP3B2	cis	Whole Blood	GTEx
rs4778687	AP3B2	cis	Thyroid	GTEx
rs4778687	AP3B2	cis	Muscle Skeletal	GTEx
rs4778687	AP3B2	cis	Adipose Subcutaneous	GTEx
rs4778687	AP3B2	cis	Esophagus Mucosa	GTEx
rs4778687	AP3B2	cis	lung	GTEx
rs4778687	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs4778687	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx
rs4778687	AP3B2	cis	Nerve Tibial	GTEx
rs4778687	RP11-152F13.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4778687	AP3B2	cis	Skin Sun Exposed Lower leg	GTEx
rs4778687	AP3B2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83315000-83318200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr15:83316800-83318200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:83317000-83318000	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr15:83317000-83319600	Enhancers	K562	blood
5	chr15:83317200-83318000	Flanking Active TSS	Brain Substantia Nigra	brain
6	chr15:83317200-83318200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:83317200-83331800	Weak transcription	Gastric	stomach
8	chr15:83317200-83336200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:83317400-83318000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:83317400-83318000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr15:83317600-83318400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:83317600-83318400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:83317600-83319200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:83317600-83320800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:83317600-83322000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:83317600-83322000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:83317600-83327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:83317800-83319200	Enhancers	Brain Angular Gyrus	brain
19	chr15:83317800-83319400	Enhancers	Brain Anterior Caudate	brain
20	chr15:83317800-83319600	Enhancers	Brain Cingulate Gyrus	brain

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