Variant report

Variant	rs559778803
Chromosome Location	chr21:40506759-40506760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3338180	chr21:40504382-40508680	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523900	chr21:40506026-40509189	Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	2 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	chr21:40503400-40508600	Weak transcription	Esophagus	oesophagus
2	chr21:40503600-40508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:40503800-40508800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:40504000-40508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:40504800-40509400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:40505000-40510000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr21:40505200-40508600	Weak transcription	Placenta	Placenta
8	chr21:40505600-40507200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:40505600-40507400	Weak transcription	HepG2	liver
10	chr21:40506400-40506800	Bivalent/Poised TSS	Fetal Brain Male	brain
11	chr21:40506400-40506800	Bivalent Enhancer	K562	blood
12	chr21:40506400-40507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:40506400-40508600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:40506600-40506800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:40506600-40506800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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