Variant report

Variant	rs73399254
Chromosome Location	chr12:117094697-117094698
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:4)

rs_ID	r²[population]
rs58355355	0.96[AFR][1000 genomes]
rs7302773	0.99[AFR][1000 genomes]
rs73399248	0.99[AFR][1000 genomes]
rs73399253	0.99[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	esv1794859	chr12:117087267-117103935	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv560343	chr12:117087497-117096007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117089400-117096000	Weak transcription	Thymus	Thymus
2	chr12:117091600-117096000	Weak transcription	Right Atrium	heart
3	chr12:117093000-117094800	Enhancers	Fetal Stomach	stomach
4	chr12:117093600-117096200	Enhancers	Fetal Muscle Leg	muscle
5	chr12:117093600-117096400	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:117093800-117096000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:117093800-117096000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:117093800-117096200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:117093800-117100600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:117094000-117095000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:117094200-117095600	Weak transcription	Fetal Thymus	thymus
12	chr12:117094200-117098000	Weak transcription	Lung	lung
13	chr12:117094600-117095600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:117094600-117095800	Weak transcription	Adipose Nuclei	Adipose
15	chr12:117094600-117095800	Weak transcription	Ovary	ovary
16	chr12:117094600-117096200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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