Variant report

Variant	rs2194667
Chromosome Location	chr2:67074654-67074655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10196555	0.92[ASN][1000 genomes]
rs1073280	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1109351	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1110585	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1111235	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713581	0.92[ASN][1000 genomes]
rs12713582	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713583	0.92[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13008648	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13018976	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13031245	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13420432	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2194662	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194664	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2194665	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2216925	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671751	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671754	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546270	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599395	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9798168	0.91[ASN][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2194667	FBXO48	cis	cerebellum	SCAN
rs2194667	COBRA1	trans	cerebellum	SCAN

Chromatin state (count:20 , 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	chr2:67072400-67077000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:67072800-67076200	Weak transcription	NHLF	lung
6	chr2:67072800-67078000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:67072800-67079200	Enhancers	Pancreas	Pancrea
8	chr2:67073000-67074800	Enhancers	Fetal Intestine Large	intestine
9	chr2:67073000-67076200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:67073000-67076200	Weak transcription	Aorta	Aorta
11	chr2:67073000-67078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:67073200-67076200	Weak transcription	Fetal Stomach	stomach
13	chr2:67073200-67077800	Weak transcription	NHDF-Ad	bronchial
14	chr2:67073800-67077800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:67074200-67076200	Weak transcription	Fetal Lung	lung
16	chr2:67074200-67079000	Weak transcription	Gastric	stomach
17	chr2:67074600-67077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:67074600-67078800	Weak transcription	HepG2	liver
19	chr2:67074600-67080000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:67074600-67080000	Weak transcription	Fetal Kidney	kidney

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