Variant report

Variant	rs73397080
Chromosome Location	chr22:29583796-29583797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16987011	1.00[AMR][1000 genomes]
rs16987087	1.00[AMR][1000 genomes]
rs28450817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs416358	1.00[AMR][1000 genomes]
rs58690800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6005989	1.00[AMR][1000 genomes]
rs6006059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61500482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397056	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8138179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9625701	1.00[AMR][1000 genomes]
rs9625702	1.00[AMR][1000 genomes]
rs9625723	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	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

No data

Chromatin state (count:19 , 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	chr22:29576600-29583800	Weak transcription	Fetal Lung	lung
4	chr22:29576600-29590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:29576600-29591200	Weak transcription	Fetal Intestine Small	intestine
6	chr22:29577600-29591200	Weak transcription	Dnd41	blood
7	chr22:29579200-29590600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:29580600-29591000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:29581000-29584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:29581200-29591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:29581400-29586200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:29581600-29583800	Weak transcription	Fetal Brain Male	brain
13	chr22:29581600-29583800	Weak transcription	Fetal Muscle Leg	muscle
14	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
15	chr22:29582000-29584000	Weak transcription	Brain Germinal Matrix	brain
16	chr22:29583000-29584600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:29583600-29584000	Enhancers	Brain Hippocampus Middle	brain
18	chr22:29583600-29584200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:29583600-29584400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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