Variant report

Variant	rs16991802
Chromosome Location	chr22:33512743-33512744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13053468	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13053779	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13054205	0.92[EUR][1000 genomes]
rs137307	0.92[ASN][1000 genomes]
rs16991804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv914982	chr22:33512743-33558767	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33507600-33512800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:33509000-33513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:33509600-33512800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:33511200-33512800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:33511400-33513200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr22:33511800-33512800	Enhancers	NHEK	skin
7	chr22:33512000-33513400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:33512200-33515200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:33512600-33513400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr22:33512600-33513400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:33512600-33513600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:33512600-33514000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:33512600-33514800	Enhancers	HMEC	breast
14	chr22:33512600-33515200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	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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