Variant report

Variant	rs12160349
Chromosome Location	chr22:29590779-29590780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12159432	0.98[AFR][1000 genomes]
rs28622069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758877	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59330168	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59606405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59689265	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006054	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60597181	1.00[AMR][1000 genomes]
rs73397096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397098	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397099	0.91[AFR][1000 genomes];1.00[AMR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3418371	chr22:29569447-29595319	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29572800-29591000	Weak transcription	Spleen	Spleen
2	chr22:29576400-29591000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:29576600-29591200	Weak transcription	Fetal Intestine Small	intestine
4	chr22:29577600-29591200	Weak transcription	Dnd41	blood
5	chr22:29580600-29591000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:29581200-29591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
8	chr22:29584600-29591600	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:29584800-29591600	Weak transcription	Brain Germinal Matrix	brain
10	chr22:29588000-29598200	Weak transcription	Fetal Brain Male	brain
11	chr22:29589000-29591400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:29589200-29591200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29589400-29591000	Weak transcription	K562	blood
14	chr22:29589400-29591400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:29589600-29597800	Weak transcription	Fetal Intestine Large	intestine
16	chr22:29590400-29590800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr22:29590600-29593200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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