Variant report

Variant	rs5753138
Chromosome Location	chr22:30836392-30836393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1076271	0.89[CEU][hapmap]
rs2299825	0.89[CEU][hapmap]
rs28360657	0.86[AMR][1000 genomes]
rs4823089	0.82[CEU][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5753138	RNF215	cis	Heart Left Ventricle	GTEx
rs5753138	RP1-130H16.16	cis	lung	GTEx

Chromatin state (count:17 , 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	chr22:30835200-30837200	Weak transcription	K562	blood
8	chr22:30835400-30836600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:30835600-30836400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:30835600-30836600	Enhancers	NHEK	skin
11	chr22:30835800-30836400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:30835800-30836400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr22:30835800-30836400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:30835800-30836400	Enhancers	Esophagus	oesophagus
15	chr22:30835800-30836400	Enhancers	HMEC	breast
16	chr22:30836000-30838400	Enhancers	Ovary	ovary
17	chr22:30836200-30836400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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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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