Variant report

Variant	rs5744321
Chromosome Location	chr1:86938383-86938384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12747430	1.00[AFR][1000 genomes]
rs1407142	0.85[ASN][1000 genomes]
rs3765984	1.00[AFR][1000 genomes]
rs3820041	1.00[AFR][1000 genomes]
rs55812833	1.00[AFR][1000 genomes]
rs55825812	1.00[AFR][1000 genomes]
rs55857117	1.00[AFR][1000 genomes]
rs56187142	1.00[AFR][1000 genomes]
rs5744303	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs5744306	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57955693	1.00[AFR][1000 genomes]
rs58658794	1.00[AFR][1000 genomes]
rs926065	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr1:86933000-86942800	Weak transcription	K562	blood
2	chr1:86934600-86938800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:86935400-86942800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:86936200-86939400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:86937000-86938800	Enhancers	GM12878-XiMat	blood
6	chr1:86937600-86938400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:86938000-86940600	Weak transcription	NHDF-Ad	bronchial
8	chr1:86938200-86940800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:86938200-86943000	Weak transcription	Fetal Lung	lung

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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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