Variant report

Variant	rs871403
Chromosome Location	chr8:20219028-20219029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1038466	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544052	0.82[EUR][1000 genomes]
rs12544080	0.82[EUR][1000 genomes]
rs12549080	0.82[EUR][1000 genomes]
rs13255790	0.83[EUR][1000 genomes]
rs13279109	0.86[EUR][1000 genomes]
rs2410641	0.81[EUR][1000 genomes]
rs3892686	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4921704	0.82[EUR][1000 genomes]
rs4921705	0.82[EUR][1000 genomes]
rs4921706	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4921710	0.83[EUR][1000 genomes]
rs4922163	0.82[EUR][1000 genomes]
rs4922164	0.80[EUR][1000 genomes]
rs4922173	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4922174	0.94[EUR][1000 genomes]
rs4922190	0.86[EUR][1000 genomes]
rs6985844	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs885437	0.85[EUR][1000 genomes]
rs900951	0.85[EUR][1000 genomes]
rs900954	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs985181	0.83[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	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
rs871403	PIPSL	trans	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20215600-20219600	Enhancers	Fetal Brain Male	brain
2	chr8:20217600-20226400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:20218200-20219800	Enhancers	Fetal Muscle Leg	muscle
4	chr8:20218400-20219200	Weak transcription	Fetal Brain Female	brain
5	chr8:20218400-20219600	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:20218600-20219200	Enhancers	Fetal Lung	lung
7	chr8:20218600-20219600	Enhancers	Fetal Stomach	stomach
8	chr8:20218600-20219800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:20218800-20219400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:20218800-20219400	Enhancers	Placenta	Placenta
11	chr8:20218800-20219600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:20218800-20219600	Enhancers	Brain Germinal Matrix	brain
13	chr8:20218800-20219800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:20219000-20219200	Flanking Active TSS	HSMM	muscle
15	chr8:20219000-20219200	Flanking Active TSS	NHDF-Ad	bronchial
16	chr8:20219000-20219400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:20219000-20219600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:20219000-20219600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:20219000-20219600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:20219000-20219600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:20219000-20219600	Flanking Active TSS	HSMMtube	muscle

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