Variant report

Variant	rs2736083
Chromosome Location	chr21:16314731-16314732
allele	A/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:8)

rs_ID	r²[population]
rs2142457	0.88[ASN][1000 genomes]
rs2403841	0.84[ASN][1000 genomes]
rs2736080	0.88[ASN][1000 genomes]
rs2739525	0.88[ASN][1000 genomes]
rs2739526	0.84[ASN][1000 genomes]
rs2776036	0.81[EUR][1000 genomes]
rs2822981	0.84[ASN][1000 genomes]
rs966529	0.88[ASN][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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16312800-16315200	Weak transcription	HSMM	muscle
2	chr21:16313200-16334800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:16314400-16318800	Enhancers	HepG2	liver
4	chr21:16314600-16316400	Enhancers	Osteobl	bone
5	chr21:16314600-16317600	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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