Variant report

Variant	rs12915294
Chromosome Location	chr15:83502777-83502778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83502060..83506247-chr15:83506644..83510779,4	K562	blood:
2	chr15:83502060..83506130-chr15:83507202..83510779,6	K562	blood:
3	chr15:83497018..83500985-chr15:83502247..83506806,4	MCF-7	breast:
4	chr15:83500530..83503230-chr15:83659180..83661791,2	K562	blood:
5	chr15:83501706..83503729-chr15:83505602..83507499,2	MCF-7	breast:
6	chr15:83497773..83500500-chr15:83501869..83504757,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12899020	0.87[EUR][1000 genomes]
rs35270670	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35946485	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36111056	0.82[EUR][1000 genomes]
rs4617830	0.84[EUR][1000 genomes]
rs7178859	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12915294	AP3B2	cis	Thyroid	GTEx
rs12915294	HDGFRP3	Cis_1M	lymphoblastoid	RTeQTL
rs12915294	AP3B2	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83479600-83504200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:83479800-83504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:83480400-83507000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:83481200-83507200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:83481400-83507000	Strong transcription	Placenta	Placenta
6	chr15:83481600-83507000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:83481800-83506200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr15:83481800-83507000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr15:83481800-83507600	Strong transcription	Adipose Nuclei	Adipose
10	chr15:83482000-83506800	Strong transcription	Fetal Intestine Large	intestine
11	chr15:83482000-83507000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:83482200-83507000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr15:83482800-83506800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr15:83483200-83507400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:83484800-83505400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:83488400-83505000	Strong transcription	Fetal Stomach	stomach
17	chr15:83489200-83506800	Weak transcription	Fetal Brain Male	brain
18	chr15:83491000-83508000	Strong transcription	Thymus	Thymus
19	chr15:83491200-83506400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr15:83491200-83507400	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:83491400-83505000	Strong transcription	Spleen	Spleen
22	chr15:83491400-83506600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:83491400-83507400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:83491400-83507400	Strong transcription	Fetal Muscle Leg	muscle
25	chr15:83491400-83508200	Strong transcription	Left Ventricle	heart
26	chr15:83491800-83506000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:83491800-83507600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:83492000-83507400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:83492200-83504200	Strong transcription	Lung	lung
30	chr15:83492200-83507400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr15:83492800-83506000	Strong transcription	Colonic Mucosa	Colon
32	chr15:83493000-83507600	Strong transcription	Fetal Brain Female	brain
33	chr15:83493400-83505800	Strong transcription	Dnd41	blood
34	chr15:83493600-83505600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr15:83493600-83506400	Strong transcription	Rectal Smooth Muscle	rectum
36	chr15:83493600-83507000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr15:83493600-83507400	Strong transcription	Primary T cells from cord blood	blood
38	chr15:83493600-83507800	Strong transcription	Brain Germinal Matrix	brain
39	chr15:83493600-83508000	Strong transcription	Primary B cells from cord blood	blood
40	chr15:83494200-83506200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:83494400-83505400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:83494800-83507400	Strong transcription	Brain Substantia Nigra	brain
43	chr15:83496600-83507200	Strong transcription	Colon Smooth Muscle	Colon
44	chr15:83496600-83507800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:83497400-83506000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:83499200-83505000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:83499400-83506200	Strong transcription	Brain Angular Gyrus	brain
48	chr15:83499600-83505600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:83499800-83503400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr15:83500400-83517600	Weak transcription	Fetal Heart	heart

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