Variant report

Variant	rs1452653
Chromosome Location	chr9:21573016-21573017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10757226	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13283078	0.86[ASN][1000 genomes]
rs1377192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1377193	1.00[ASN][1000 genomes]
rs1452654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452660	0.91[AFR][1000 genomes]
rs1542302	0.87[AFR][1000 genomes]
rs1551919	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1562996	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4141713	0.96[ASN][1000 genomes]
rs4978124	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6475539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7042262	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7046179	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7046475	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs71504796	0.86[ASN][1000 genomes]
rs9298816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs973422	0.93[AFR][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	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
2	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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	122 gene(s)	inside rSNPs	diseases
3	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1452653	IFNW1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21565600-21576000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:21568200-21576200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:21571000-21574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:21571000-21575600	Weak transcription	NHDF-Ad	bronchial
5	chr9:21571200-21573200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:21571200-21575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:21571200-21575600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:21571200-21575600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:21571200-21575600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:21571200-21575800	Weak transcription	NHLF	lung
11	chr9:21571800-21574200	Weak transcription	NH-A	brain
12	chr9:21571800-21575600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:21572200-21573800	Enhancers	A549	lung
14	chr9:21572200-21574000	Weak transcription	Hela-S3	cervix
15	chr9:21572200-21575400	Weak transcription	HMEC	breast
16	chr9:21572800-21575400	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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