Variant report

Variant	rs57654747
Chromosome Location	chr12:62093819-62093820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs74095409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095600	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1042044	chr12:61256015-62196885	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1039741	chr12:62046850-62491052	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2829973	chr12:62078770-62115165	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv520898	chr12:62078770-62115165	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62092800-62094000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:62093000-62094200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:62093000-62095800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:62093200-62094000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:62093200-62094200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:62093200-62095800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:62093400-62094000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr12:62093400-62094200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:62093400-62095000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:62093600-62094200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:62093600-62094200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:62093800-62094400	Enhancers	HUES48 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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