Variant report

Variant	rs73220799
Chromosome Location	chr12:94514408-94514409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7975365	0.87[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	nsv497801	chr12:93767889-94660951	Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv9000	chr12:94219693-94653157	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr12:94508800-94521800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:94510000-94515200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:94510000-94522400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:94510600-94515800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:94514200-94514600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:94514200-94514600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:94514400-94514600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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