Variant report

Variant	rs532388640
Chromosome Location	chr1:214775559-214775560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
CENPF	TF binding region
ENSG00000224584	Chromatin interaction
ENSG00000143499	Chromatin interaction
ENSG00000152104	Chromatin interaction
ENSG00000250536	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1791911	chr1:214774278-214776936	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:214774200-214776000	Enhancers	HepG2	liver
2	chr1:214775200-214775600	Enhancers	Dnd41	blood
3	chr1:214775400-214775600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:214775400-214775600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:214775400-214775600	Flanking Active TSS	A549	lung
6	chr1:214775400-214775600	Enhancers	NHEK	skin
7	chr1:214775400-214775800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:214775400-214776000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:214775400-214776200	Flanking Active TSS	K562	blood

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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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