Variant report

Variant	rs1188690
Chromosome Location	chr14:56798499-56798500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1152463	1.00[CEU][hapmap];0.84[CHD][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs1152489	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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
rs1188690	PELI2	cis	brain	BrainEAC

Chromatin state (count:39 , 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	chr14:56793800-56798600	Weak transcription	Fetal Lung	lung
9	chr14:56793800-56799800	Weak transcription	NHDF-Ad	bronchial
10	chr14:56793800-56806600	Weak transcription	Aorta	Aorta
11	chr14:56794800-56799600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:56795000-56798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:56795200-56800000	Weak transcription	NHEK	skin
14	chr14:56795400-56800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:56796800-56800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:56797000-56798600	Weak transcription	Right Atrium	heart
17	chr14:56797200-56799400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:56797200-56799800	Weak transcription	Fetal Thymus	thymus
19	chr14:56797400-56798600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:56797400-56799600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:56797600-56798600	Weak transcription	Lung	lung
22	chr14:56797600-56800000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:56797800-56800000	Weak transcription	Ovary	ovary
24	chr14:56797800-56808800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:56798000-56799200	Enhancers	NHLF	lung
26	chr14:56798200-56798800	Genic enhancers	Pancreas	Pancrea
27	chr14:56798200-56799000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:56798200-56799000	Enhancers	NH-A	brain
29	chr14:56798200-56801400	Enhancers	Dnd41	blood
30	chr14:56798400-56798800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:56798400-56798800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:56798400-56798800	Enhancers	HSMMtube	muscle
33	chr14:56798400-56799000	Enhancers	Primary T cells from cord blood	blood
34	chr14:56798400-56799000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr14:56798400-56799200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:56798400-56799200	Enhancers	Brain Germinal Matrix	brain
37	chr14:56798400-56799200	Enhancers	Fetal Stomach	stomach
38	chr14:56798400-56799600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr14:56798400-56800000	Weak transcription	Small Intestine	intestine

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