Variant report

Variant	rs1152493
Chromosome Location	chr14:56801008-56801009
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56800511..56802640-chr14:56807027..56808554,2	K562	blood:
2	chr14:56643693..56645416-chr14:56800419..56803265,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1023120	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs1028973	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs1152464	1.00[CEU][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs1152466	1.00[CEU][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs1152471	0.94[EUR][1000 genomes]
rs1152477	0.94[EUR][1000 genomes]
rs1152478	0.90[JPT][hapmap]
rs1152479	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs1152486	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1152488	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1188689	0.87[EUR][1000 genomes]
rs1188691	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2297610	0.83[JPT][hapmap]
rs6573085	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1152493	PELI2	cis	frontal cortex	BrainEAC
rs1152493	PELI2	cis	occipital cortex	BrainEAC
rs1152493	PELI2	cis	temporal cortex	BrainEAC
rs1152493	PELI2	cis	cerebellar cortex	BrainEAC
rs1152493	PELI2	cis	brain	BrainEAC
rs1152493	PELI2	cis	thalamus	BrainEAC
rs1152493	PELI2	cis	intralobular white matter	BrainEAC

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
2	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:56792400-56808400	Weak transcription	Fetal Brain Female	brain
4	chr14:56793800-56806600	Weak transcription	Aorta	Aorta
5	chr14:56797800-56808800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:56798200-56801400	Enhancers	Dnd41	blood
7	chr14:56798600-56801400	Enhancers	Fetal Lung	lung
8	chr14:56798800-56806600	Weak transcription	HSMMtube	muscle
9	chr14:56798800-56806800	Weak transcription	Placenta	Placenta
10	chr14:56798800-56818600	Weak transcription	Pancreas	Pancrea
11	chr14:56799000-56806600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:56799000-56808400	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:56799000-56808600	Weak transcription	Primary T cells from cord blood	blood
14	chr14:56799400-56801800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:56799400-56806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:56799600-56802000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:56799600-56802000	Enhancers	NHLF	lung
18	chr14:56799600-56802200	Enhancers	HUVEC	blood vessel
19	chr14:56799800-56801800	Enhancers	NHDF-Ad	bronchial
20	chr14:56799800-56802000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr14:56800000-56801200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr14:56800000-56801400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:56800000-56801600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:56800000-56801600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:56800000-56801600	Enhancers	Osteobl	bone
26	chr14:56800000-56801800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr14:56800000-56801800	Enhancers	NH-A	brain
28	chr14:56800000-56802200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:56800400-56805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:56800400-56806400	Weak transcription	Adipose Nuclei	Adipose
31	chr14:56800400-56806400	Weak transcription	Lung	lung
32	chr14:56800600-56805200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:56800600-56805600	Weak transcription	HSMM	muscle
34	chr14:56800600-56806400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:56800800-56805200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:56800800-56805600	Weak transcription	K562	blood
37	chr14:56800800-56806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:56800800-56809800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:56801000-56802200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:56801000-56804800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:56801000-56806200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:56801000-56806400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:56801000-56806400	Weak transcription	Hela-S3	cervix

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