Variant report

Variant	rs1250142
Chromosome Location	chr12:63422968-63422969
allele	A/G
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:11)

rs_ID	r²[population]
rs10877947	1.00[AMR][1000 genomes]
rs1495030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61654750	1.00[AMR][1000 genomes]
rs699598	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327818	1.00[AMR][1000 genomes]
rs771982	1.00[AMR][1000 genomes]
rs771984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7967943	1.00[AMR][1000 genomes]
rs968994	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs983981	0.90[AFR][1000 genomes];1.00[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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63421200-63423000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:63422000-63423600	Weak transcription	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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