Variant report

Variant	rs8028130
Chromosome Location	chr15:83403726-83403727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83356917..83359124-chr15:83401843..83404031,2	K562	blood:
2	chr15:83400639..83403805-chr15:83416232..83419721,4	K562	blood:
3	chr15:83395272..83399717-chr15:83401621..83404173,4	K562	blood:

Variant related genes	Relation type
ENSG00000259315	Chromatin interaction
ENSG00000266697	Chromatin interaction
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1431716	0.86[YRI][hapmap]
rs28371837	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28607761	0.85[EUR][1000 genomes]
rs28864981	0.84[EUR][1000 genomes]
rs35728728	0.84[EUR][1000 genomes]
rs4513065	0.85[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4627310	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4779035	0.86[YRI][hapmap]
rs7161977	0.85[YRI][hapmap]
rs7163848	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7165690	0.85[YRI][hapmap]
rs8032321	0.84[EUR][1000 genomes]
rs8040488	0.85[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3413738	chr15:83390947-83422928	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs8028130	AP3B2	cis	Nerve Tibial	GTEx
rs8028130	AP3B2	cis	Esophagus Muscularis	GTEx
rs8028130	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs8028130	AP3B2	cis	Adipose Subcutaneous	GTEx
rs8028130	AP3B2	cis	Muscle Skeletal	GTEx
rs8028130	AP3B2	cis	Whole Blood	GTEx
rs8028130	AP3B2	cis	Esophagus Mucosa	GTEx
rs8028130	AP3B2	cis	Artery Tibial	GTEx
rs8028130	RP11-152F13.3	cis	Skin Sun Exposed Lower leg	GTEx
rs8028130	AP3B2	cis	Skin Sun Exposed Lower leg	GTEx
rs8028130	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx
rs8028130	AP3B2	cis	Thyroid	GTEx
rs8028130	AP3B2	cis	lung	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83393600-83406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:83393800-83418400	Weak transcription	Thymus	Thymus
3	chr15:83394200-83404600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:83394400-83418200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:83394400-83418400	Weak transcription	Primary B cells from cord blood	blood
6	chr15:83394600-83407200	Weak transcription	HSMMtube	muscle
7	chr15:83394800-83418400	Weak transcription	Brain Angular Gyrus	brain
8	chr15:83395600-83407600	Weak transcription	Spleen	Spleen
9	chr15:83395800-83418200	Weak transcription	GM12878-XiMat	blood
10	chr15:83396000-83403800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:83396200-83417800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:83396600-83418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:83397400-83403800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:83397600-83410600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:83398000-83409200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:83398200-83405600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:83398400-83418200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:83399200-83418000	Weak transcription	Left Ventricle	heart
19	chr15:83399600-83410600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:83399800-83408400	Weak transcription	Ovary	ovary
21	chr15:83399800-83413400	Weak transcription	Lung	lung
22	chr15:83399800-83418400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:83399800-83418400	Weak transcription	Adipose Nuclei	Adipose
24	chr15:83400000-83407600	Weak transcription	HSMM	muscle
25	chr15:83400400-83418400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:83401200-83407400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:83401200-83418400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:83401600-83405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:83401600-83406200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:83401800-83410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:83402000-83418200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:83402200-83403800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:83402200-83406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:83402200-83407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:83402200-83411200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:83402400-83403800	Weak transcription	Primary T cells from cord blood	blood
37	chr15:83402400-83407000	Weak transcription	Fetal Stomach	stomach
38	chr15:83402400-83412800	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:83402400-83418200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:83402600-83404600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr15:83402600-83405800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:83402600-83407800	Weak transcription	Osteobl	bone
43	chr15:83402600-83418200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:83402800-83411200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:83402800-83418200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:83403000-83408000	Weak transcription	HUVEC	blood vessel
47	chr15:83403400-83409800	Weak transcription	Placenta	Placenta
48	chr15:83403600-83404400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:83403600-83406400	Strong transcription	Liver	Liver
50	chr15:83403600-83407800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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