Variant report

Variant	rs688559
Chromosome Location	chr19:39471120-39471121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:39471029-39471585	K562	blood:	n/a	n/a
2	TRIM28	chr19:39471116-39471519	K562	blood:	n/a	n/a
3	KAP1	chr19:39470996-39471925	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39420391..39423581-chr19:39468736..39471563,3	K562	blood:
2	chr19:39469273..39472050-chr19:39495885..39497816,2	MCF-7	breast:
3	chr19:39470454..39473191-chr19:39473840..39476726,2	MCF-7	breast:
4	chr19:39466590..39468490-chr19:39469783..39471749,2	MCF-7	breast:
5	chr19:39470241..39471919-chr19:39522742..39524502,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
FBXO17	TF binding region
ENSG00000128626	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000161243	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3318111	chr19:39470551-39471952	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3318109	chr19:39470601-39471926	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3318112	chr19:39470626-39471892	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3318110	chr19:39470677-39471844	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3318113	chr19:39470691-39471842	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs688559	FBXO27	cis	Skin Sun Exposed Lower leg	GTEx
rs688559	CTB-189B5.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39467400-39471200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:39467600-39471400	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:39467600-39471400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr19:39469400-39471400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:39470200-39471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:39470400-39472000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:39470800-39471400	Weak transcription	Liver	Liver

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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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