Variant report

Variant	rs17691274
Chromosome Location	chr14:56799965-56799966
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	chr14:56798962..56800809-chr14:56842457..56844323,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10483657	0.84[MKK][hapmap];0.84[TSI][hapmap];0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17690981	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3783677	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3783682	0.84[MKK][hapmap];0.80[TSI][hapmap];0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3783683	0.85[EUR][1000 genomes]
rs3825619	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs55724547	0.92[AFR][1000 genomes]
rs56091865	0.95[EUR][1000 genomes]
rs56280775	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56387985	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs56401225	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58069847	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8018553	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17691274	PTGER2	cis	cerebellum	SCAN

Chromatin state (count:42 , 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	chr14:56788400-56800000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:56788400-56800200	Weak transcription	Gastric	stomach
5	chr14:56792400-56800000	Weak transcription	HSMM	muscle
6	chr14:56792400-56808400	Weak transcription	Fetal Brain Female	brain
7	chr14:56793200-56800000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:56793800-56806600	Weak transcription	Aorta	Aorta
9	chr14:56795200-56800000	Weak transcription	NHEK	skin
10	chr14:56795400-56800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:56796800-56800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:56797600-56800000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:56797800-56800000	Weak transcription	Ovary	ovary
14	chr14:56797800-56808800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:56798200-56801400	Enhancers	Dnd41	blood
16	chr14:56798400-56800000	Weak transcription	Small Intestine	intestine
17	chr14:56798600-56801400	Enhancers	Fetal Lung	lung
18	chr14:56798800-56800000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:56798800-56800000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:56798800-56806600	Weak transcription	HSMMtube	muscle
21	chr14:56798800-56806800	Weak transcription	Placenta	Placenta
22	chr14:56798800-56818600	Weak transcription	Pancreas	Pancrea
23	chr14:56799000-56800000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:56799000-56800000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:56799000-56800000	Weak transcription	NH-A	brain
26	chr14:56799000-56806600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:56799000-56808400	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:56799000-56808600	Weak transcription	Primary T cells from cord blood	blood
29	chr14:56799200-56800400	Enhancers	Lung	lung
30	chr14:56799400-56801800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:56799400-56806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:56799600-56800000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:56799600-56800000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr14:56799600-56800800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:56799600-56802000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr14:56799600-56802000	Enhancers	NHLF	lung
37	chr14:56799600-56802200	Enhancers	HUVEC	blood vessel
38	chr14:56799800-56800800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr14:56799800-56800800	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:56799800-56801000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:56799800-56801800	Enhancers	NHDF-Ad	bronchial
42	chr14:56799800-56802000	Enhancers	Pancreatic Islets	Pancreatic Islet

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