Variant report

Variant	rs1591493
Chromosome Location	chr1:166699645-166699646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12142284	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12142352	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12143442	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17402328	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61814974	0.81[AMR][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2752389	chr1:166625342-166706342	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166699000-166700400	Enhancers	K562	blood
2	chr1:166699200-166699800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:166699200-166700400	Enhancers	HMEC	breast
4	chr1:166699400-166700000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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