Variant report

Variant	rs548820016
Chromosome Location	chr20:23648450-23648451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv458950	chr20:23642427-23721992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv585724	chr20:23642427-23721992	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv979417	chr20:23643043-23651277	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3454907	chr20:23643949-23775044	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3454909	chr20:23643949-23775044	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv458952	chr20:23644387-23775819	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv585725	chr20:23644387-23775819	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1056210	chr20:23645826-23697939	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3450213	chr20:23646333-23701687	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1057975	chr20:23647482-23702005	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23637200-23660000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23641800-23652200	Weak transcription	Adipose Nuclei	Adipose
3	chr20:23642400-23649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr20:23646000-23649200	Weak transcription	HepG2	liver
5	chr20:23647000-23648800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr20:23647600-23648600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:23648200-23649400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:23648200-23650400	Weak transcription	Spleen	Spleen
9	chr20:23648400-23648600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:23648400-23648600	Enhancers	Fetal Muscle Trunk	muscle
11	chr20:23648400-23648800	Enhancers	Fetal Muscle Leg	muscle
12	chr20:23648400-23649200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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