Variant report

Variant	rs542067418
Chromosome Location	chr21:28228153-28228154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv20165	chr21:28227783-28234286	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28219400-28229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:28225400-28229000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr21:28225600-28228400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:28225600-28228400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:28225800-28228600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:28226000-28229200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:28228000-28228200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr21:28228000-28228200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr21:28228000-28228400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:28228000-28229200	Enhancers	HUES48 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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