Variant report

Variant	rs12148513
Chromosome Location	chr15:75222225-75222226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75212247..75213940-chr15:75221942..75223601,2	K562	blood:
2	chr15:75221438..75223401-chr15:75228953..75231403,2	MCF-7	breast:
3	chr15:75218179..75219714-chr15:75221927..75224825,2	K562	blood:
4	chr15:75210612..75213940-chr15:75219994..75223601,6	K562	blood:
5	chr15:75199878..75202215-chr15:75221467..75223447,2	K562	blood:
6	chr15:75220124..75223006-chr15:75247944..75250326,2	MCF-7	breast:
7	chr15:75219486..75222765-chr15:75228648..75231849,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198794	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000178741	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11072513	0.83[AFR][1000 genomes]
rs11072514	0.83[AFR][1000 genomes]
rs11072516	0.82[EUR][1000 genomes]
rs11638576	0.91[AFR][1000 genomes]
rs11856413	0.83[AFR][1000 genomes]
rs12901190	0.83[AFR][1000 genomes]
rs12903370	0.83[AFR][1000 genomes]
rs12904326	0.83[AFR][1000 genomes]
rs12909335	0.83[AFR][1000 genomes]
rs12912839	0.83[AFR][1000 genomes]
rs7495664	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12148513	SCAMP2	cis	Esophagus Mucosa	GTEx
rs12148513	SCAMP5	cis	Artery Tibial	GTEx
rs12148513	SCAMP2	cis	Whole Blood	GTEx
rs12148513	PPCDC	cis	Muscle Skeletal	GTEx
rs12148513	COX5A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75199600-75229400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75200000-75224000	Weak transcription	Stomach Mucosa	stomach
3	chr15:75201000-75224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:75202000-75224400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr15:75202200-75224400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:75202600-75224800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:75202600-75225000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr15:75203000-75224400	Strong transcription	Fetal Muscle Leg	muscle
9	chr15:75203000-75224600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:75203800-75223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:75203800-75224200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr15:75203800-75224400	Strong transcription	Fetal Intestine Large	intestine
13	chr15:75203800-75224600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:75204000-75222400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:75204000-75224200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:75204000-75224200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:75204000-75224400	Strong transcription	Placenta	Placenta
18	chr15:75204000-75224600	Strong transcription	Liver	Liver
19	chr15:75204000-75224600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:75204000-75224800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:75204000-75224800	Strong transcription	Fetal Thymus	thymus
22	chr15:75204000-75228400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:75204200-75224200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:75204400-75224600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr15:75204600-75229200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:75205600-75223200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:75206200-75224400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:75206400-75224200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:75206800-75224600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:75207000-75225800	Strong transcription	Hela-S3	cervix
31	chr15:75207200-75224200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:75207200-75224400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr15:75207800-75227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:75209200-75224600	Strong transcription	Adipose Nuclei	Adipose
35	chr15:75209400-75224600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:75209600-75222400	Strong transcription	Dnd41	blood
37	chr15:75212400-75229600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:75212600-75229200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr15:75212800-75224200	Strong transcription	Fetal Intestine Small	intestine
40	chr15:75212800-75224200	Strong transcription	Fetal Stomach	stomach
41	chr15:75212800-75226000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:75213200-75222400	Strong transcription	HUVEC	blood vessel
43	chr15:75213200-75224000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr15:75213200-75227000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr15:75213200-75227000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:75213400-75223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:75213400-75224400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:75213400-75224600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:75213400-75225000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:75213600-75227600	Weak transcription	Psoas Muscle	Psoas

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