Variant report

Variant	rs62220278
Chromosome Location	chr21:16650850-16650851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16980826	0.94[EUR][1000 genomes]
rs16980835	0.94[EUR][1000 genomes]
rs16980843	0.94[EUR][1000 genomes]
rs16980928	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17275037	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62220271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62220272	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62220273	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62220274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62220275	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62220276	0.94[EUR][1000 genomes]
rs62220277	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7276931	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7277875	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7278014	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 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	chr21:16636200-16653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:16648200-16651400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:16648600-16651400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:16649000-16651000	Weak transcription	HMEC	breast
5	chr21:16649000-16652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:16649000-16652000	Weak transcription	HSMM	muscle
7	chr21:16649000-16652400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr21:16649000-16654400	Weak transcription	Placenta	Placenta
9	chr21:16649000-16655200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:16650400-16652000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:16650600-16651000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:16650600-16651000	Enhancers	Adipose Nuclei	Adipose
13	chr21:16650800-16651600	Enhancers	Ovary	ovary
14	chr21:16650800-16652400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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

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