Variant report

Variant	rs548440382
Chromosome Location	chr21:17459000-17459001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv913414	chr21:17383785-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2830060	chr21:17400916-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv527854	chr21:17400916-17459507	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1851038	chr21:17412144-17488119	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17446200-17481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:17446800-17472200	Weak transcription	Fetal Brain Female	brain
3	chr21:17454800-17466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr21:17455600-17459400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:17456000-17459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:17456800-17460400	Active TSS	Brain Angular Gyrus	brain
7	chr21:17457000-17459600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr21:17457200-17460000	Active TSS	Brain Substantia Nigra	brain
9	chr21:17457400-17460000	Active TSS	Brain Cingulate Gyrus	brain
10	chr21:17457400-17460000	Active TSS	Brain Hippocampus Middle	brain
11	chr21:17458000-17460400	Weak transcription	Psoas Muscle	Psoas
12	chr21:17458600-17459400	Weak transcription	Brain Anterior Caudate	brain
13	chr21:17458600-17459400	Enhancers	NHDF-Ad	bronchial
14	chr21:17458800-17459600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:17458800-17459600	Enhancers	Osteobl	bone

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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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