Variant report

Variant	rs56197326
Chromosome Location	chr12:68368863-68368864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2904537	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs55657727	0.86[AMR][1000 genomes]
rs56005528	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56363740	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57309000	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs59161212	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs60801514	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs61627136	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7133527	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73324848	0.87[AFR][1000 genomes]
rs74099901	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7959936	1.00[AFR][1000 genomes];0.96[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr12:68356200-68370600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:68368400-68375000	Weak transcription	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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