Variant report

Variant	rs73908333
Chromosome Location	chr21:39994281-39994282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1013070	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16996660	1.00[AMR][1000 genomes]
rs16996671	1.00[AMR][1000 genomes]
rs56350348	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56381282	1.00[AMR][1000 genomes]
rs73902703	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73902706	1.00[AMR][1000 genomes]
rs73906346	1.00[AMR][1000 genomes]
rs8133992	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439673	chr21:39994174-39994735	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39989200-39997600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:39993200-39994400	Enhancers	Fetal Muscle Trunk	muscle
3	chr21:39993200-39994600	Enhancers	Aorta	Aorta
4	chr21:39993200-39995600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:39993200-39996600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:39993400-39994400	Weak transcription	Pancreas	Pancrea
7	chr21:39993800-39995600	Enhancers	HepG2	liver
8	chr21:39994200-39994600	Enhancers	H1 Derived Mesenchymal Stem 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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