Variant report

Variant	rs528248228
Chromosome Location	chr21:28477025-28477026
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
6	esv3455126	chr21:28476518-28477558	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
7	esv3504275	chr21:28476555-28477556	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
8	esv3455127	chr21:28476566-28477533	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
9	esv3504274	chr21:28476567-28477542	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
10	esv3504271	chr21:28476575-28477475	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
11	esv3455124	chr21:28476582-28477481	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
12	esv3455125	chr21:28476586-28477521	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
13	esv3504272	chr21:28476603-28477488	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
14	esv3504276	chr21:28476605-28477495	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
15	esv3504270	chr21:28476658-28477441	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
16	esv3455128	chr21:28476662-28477439	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
17	esv3504277	chr21:28476662-28477439	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
18	esv16011	chr21:28476934-28477619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
2	chr21:28472000-28477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:28474600-28477200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:28474600-28477200	Weak transcription	NHDF-Ad	bronchial
5	chr21:28475400-28477200	Weak transcription	Adipose Nuclei	Adipose
6	chr21:28475600-28477400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28476000-28477600	Enhancers	Hela-S3	cervix
8	chr21:28476200-28477400	Weak transcription	Ovary	ovary
9	chr21:28476800-28477600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:28477000-28478000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr21:28477000-28478200	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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