Variant report

Variant	rs3990339
Chromosome Location	chr12:44300728-44300729
allele	A/G
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]
rs10785462	0.81[AMR][1000 genomes]
rs10785463	0.81[AMR][1000 genomes]
rs1675781	0.81[AMR][1000 genomes]
rs2407787	0.84[AMR][1000 genomes]
rs4238089	0.81[AMR][1000 genomes]
rs4238091	0.81[AMR][1000 genomes]
rs4537822	0.81[AMR][1000 genomes]
rs4572198	0.81[AMR][1000 genomes]
rs4572199	0.81[AMR][1000 genomes]
rs4609659	0.81[AMR][1000 genomes]
rs4768538	0.81[AMR][1000 genomes]
rs5019975	0.81[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	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv526719	chr12:44298417-44315762	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44293800-44300800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:44298800-44307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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

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