Variant report

Variant	rs2836534
Chromosome Location	chr21:39949551-39949552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2836525	1.00[CEU][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836527	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4817952	0.81[ASN][1000 genomes]
rs715860	0.83[CEU][hapmap]
rs7278432	0.88[CEU][hapmap]
rs7281966	0.87[EUR][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	esv2751930	chr21:39917180-39956061	Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39942200-39955200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:39947200-39961000	Weak transcription	Aorta	Aorta
3	chr21:39948600-39949600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:39948600-39950000	Enhancers	Fetal Muscle Leg	muscle
5	chr21:39948800-39949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:39948800-39950200	Enhancers	Fetal Stomach	stomach
7	chr21:39949400-39949800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:39949400-39950200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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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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