Variant report

Variant	rs73397081
Chromosome Location	chr22:29583812-29583813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs58306818	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59016854	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61615024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397067	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399003	1.00[AMR][1000 genomes]
rs73399007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399012	1.00[AMR][1000 genomes]
rs73399014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399023	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399025	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399034	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399041	1.00[AMR][1000 genomes]
rs73399043	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399048	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399052	1.00[AMR][1000 genomes]
rs73399056	1.00[AMR][1000 genomes]
rs73399059	1.00[AMR][1000 genomes]
rs9620871	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:20 , 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	chr22:29576600-29590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29576600-29591200	Weak transcription	Fetal Intestine Small	intestine
5	chr22:29577600-29591200	Weak transcription	Dnd41	blood
6	chr22:29579200-29590600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:29580600-29591000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:29581000-29584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:29581200-29591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:29581400-29586200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
12	chr22:29582000-29584000	Weak transcription	Brain Germinal Matrix	brain
13	chr22:29583000-29584600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr22:29583600-29584000	Enhancers	Brain Hippocampus Middle	brain
15	chr22:29583600-29584200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:29583600-29584400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:29583800-29584000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:29583800-29584400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr22:29583800-29584600	Enhancers	Fetal Muscle Leg	muscle
20	chr22:29583800-29588000	Enhancers	Fetal Brain Male	brain

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