Variant report

Variant	rs72919975
Chromosome Location	chr4:122858451-122858452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57064484	0.91[AFR][1000 genomes]
rs57982206	0.90[AFR][1000 genomes]
rs59345474	1.00[AFR][1000 genomes]
rs60084481	1.00[AFR][1000 genomes]
rs72919912	0.90[AFR][1000 genomes]
rs72919944	1.00[AFR][1000 genomes]
rs72919946	1.00[AFR][1000 genomes]
rs72919967	1.00[AFR][1000 genomes]
rs72919972	1.00[AFR][1000 genomes]
rs72919980	1.00[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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122813400-122860600	Weak transcription	Fetal Lung	lung
2	chr4:122852200-122859400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:122853800-122860000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:122854400-122859600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:122854400-122860000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:122856600-122860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:122857400-122861200	Enhancers	Fetal Heart	heart

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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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