Variant report

Variant	rs9326040
Chromosome Location	chr1:57091242-57091243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10888994	0.91[ASN][1000 genomes]
rs12124565	0.91[ASN][1000 genomes]
rs12124604	0.91[ASN][1000 genomes]
rs17114158	0.91[ASN][1000 genomes]
rs6679902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687634	0.91[ASN][1000 genomes]
rs7516242	0.86[ASN][1000 genomes]
rs7527842	0.86[ASN][1000 genomes]
rs7539169	0.82[ASN][1000 genomes]
rs7545197	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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2762142	chr1:57082459-57094901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57083200-57091600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:57090800-57091800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:57090800-57093800	Enhancers	Hela-S3	cervix
4	chr1:57091000-57092200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:57091000-57093600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:57091000-57093800	Enhancers	NHDF-Ad	bronchial
7	chr1:57091200-57092000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:57091200-57092800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:57091200-57093600	Enhancers	Foreskin Fibroblast Primary Cells skin01	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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