Variant report

Variant	rs1021268
Chromosome Location	chr2:62818996-62818997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1014119	0.91[ASN][1000 genomes]
rs10183859	0.93[ASN][1000 genomes]
rs10221574	0.85[ASN][1000 genomes]
rs12691187	0.87[ASN][1000 genomes]
rs12713463	0.82[ASN][1000 genomes]
rs12713465	0.86[ASN][1000 genomes]
rs13396557	0.86[ASN][1000 genomes]
rs13422188	0.86[ASN][1000 genomes]
rs1527965	0.88[ASN][1000 genomes]
rs1527966	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1527967	0.86[ASN][1000 genomes]
rs1601674	0.86[ASN][1000 genomes]
rs1872788	0.84[ASN][1000 genomes]
rs1906200	0.84[ASN][1000 genomes]
rs1906201	0.90[ASN][1000 genomes]
rs1906202	0.91[ASN][1000 genomes]
rs4271755	0.90[ASN][1000 genomes]
rs4671429	0.84[ASN][1000 genomes]
rs4671432	0.91[ASN][1000 genomes]
rs6753844	0.93[ASN][1000 genomes]
rs901530	0.93[ASN][1000 genomes]
rs9309344	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9636442	0.91[ASN][1000 genomes]
rs9677313	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1021268	PEX13	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62813400-62819400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:62813600-62819200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:62815000-62822600	Weak transcription	NHLF	lung
4	chr2:62815200-62822400	Weak transcription	Fetal Stomach	stomach
5	chr2:62815200-62822600	Weak transcription	NH-A	brain
6	chr2:62815400-62823000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:62817200-62819200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:62817400-62822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:62817400-62822400	Weak transcription	Osteobl	bone
10	chr2:62817600-62820800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:62817600-62822000	Weak transcription	NHDF-Ad	bronchial
12	chr2:62817600-62822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:62818000-62821000	Weak transcription	HepG2	liver
14	chr2:62818000-62822600	Weak transcription	Ovary	ovary
15	chr2:62818800-62819200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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