Variant report

Variant	rs1110581
Chromosome Location	chr2:67077111-67077112
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1121247	0.80[AMR][1000 genomes]
rs1420366	0.87[CEU][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap]
rs1863142	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2861183	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2861282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2861284	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6546271	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6746213	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7573989	0.80[AMR][1000 genomes]
rs7574079	0.80[AMR][1000 genomes]
rs7587400	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009027	chr2:66947462-67114455	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1110581	PNO1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67068400-67080200	Weak transcription	Ovary	ovary
2	chr2:67068600-67077800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:67069000-67081400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:67072800-67078000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:67072800-67079200	Enhancers	Pancreas	Pancrea
6	chr2:67073000-67078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:67073200-67077800	Weak transcription	NHDF-Ad	bronchial
8	chr2:67073800-67077800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:67074200-67079000	Weak transcription	Gastric	stomach
10	chr2:67074600-67077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:67074600-67078800	Weak transcription	HepG2	liver
12	chr2:67074600-67080000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:67074600-67080000	Weak transcription	Fetal Kidney	kidney
14	chr2:67076200-67077800	Enhancers	Fetal Brain Male	brain
15	chr2:67076200-67079400	Enhancers	Fetal Lung	lung
16	chr2:67076200-67079600	Enhancers	Fetal Stomach	stomach
17	chr2:67076200-67081800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:67076200-67082400	Enhancers	Colon Smooth Muscle	Colon
19	chr2:67076200-67082400	Enhancers	NHLF	lung
20	chr2:67076400-67077600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:67076400-67078000	Enhancers	Placenta	Placenta
22	chr2:67076600-67077200	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:67076600-67077800	Enhancers	Lung	lung
24	chr2:67077000-67077200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:67077000-67078000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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