Variant report

Variant	rs533238249
Chromosome Location	chr14:80931452-80931453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv15289	chr14:80900600-80939903	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3343342	chr14:80930938-80938992	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80923400-80941200	Weak transcription	HSMM	muscle
2	chr14:80925200-80941400	Weak transcription	Psoas Muscle	Psoas
3	chr14:80926000-80937000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:80926200-80936200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:80929600-80939200	Weak transcription	Thymus	Thymus
6	chr14:80931200-80931600	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:80931200-80932600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:80931400-80935000	Weak transcription	H9 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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