Variant report

Variant	rs5994669
Chromosome Location	chr22:33509490-33509491
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16991871	1.00[AMR][1000 genomes]
rs241724	1.00[AMR][1000 genomes]
rs73395625	1.00[AMR][1000 genomes]
rs73401900	1.00[AMR][1000 genomes]
rs73881966	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33504600-33510200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33507400-33510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:33507400-33510200	Weak transcription	NHEK	skin
4	chr22:33507600-33510200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:33507600-33512800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:33508000-33509600	Enhancers	Primary hematopoietic stem cells	blood
7	chr22:33508200-33510400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:33509000-33510600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:33509000-33513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:33509200-33509600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:33509200-33512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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