Variant report

Variant	rs78491563
Chromosome Location	chr22:30837212-30837213
allele	G/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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv459870	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv588886	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
2	chr22:30831800-30841000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:30832000-30841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
5	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
6	chr22:30832600-30837800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:30836000-30838400	Enhancers	Ovary	ovary
8	chr22:30836400-30839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:30836400-30839000	Weak transcription	HMEC	breast
10	chr22:30836400-30839200	Weak transcription	Esophagus	oesophagus
11	chr22:30836400-30840600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:30836600-30838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:30837000-30837400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr22:30837000-30837600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:30837200-30837400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:30837200-30837400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:30837200-30839200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:30837200-30839600	Enhancers	K562	blood

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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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