Variant report

Variant	rs2836648
Chromosome Location	chr21:40101580-40101581
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]
rs11911174	0.82[AMR][1000 genomes]
rs1543656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017076	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410050	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836642	0.82[AMR][1000 genomes]
rs2836645	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2836649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61585212	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs735249	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40095000-40106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40097600-40101800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:40097800-40101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:40098000-40101800	Weak transcription	Aorta	Aorta
5	chr21:40098000-40101800	Weak transcription	NHEK	skin
6	chr21:40098000-40105800	Weak transcription	Dnd41	blood
7	chr21:40098200-40102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:40098400-40101800	Weak transcription	Esophagus	oesophagus
9	chr21:40099000-40101800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:40101000-40101600	Enhancers	HSMMtube	muscle
11	chr21:40101000-40101800	Enhancers	HSMM	muscle
12	chr21:40101000-40102600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr21:40101400-40102400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:40101400-40102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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