Variant report

Variant	rs73880588
Chromosome Location	chr22:27976660-27976661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27974711..27977590-chr22:27977808..27980732,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12168428	1.00[AMR][1000 genomes]
rs4239927	1.00[AMR][1000 genomes]
rs45457893	1.00[AMR][1000 genomes]
rs73880587	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620704	1.00[AMR][1000 genomes]
rs9625259	1.00[AMR][1000 genomes]
rs9625261	1.00[AMR][1000 genomes]
rs9625263	1.00[AMR][1000 genomes]
rs9625271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv588877	chr22:27930080-28094845	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27969800-27980800	Enhancers	Fetal Stomach	stomach
2	chr22:27970200-27979600	Weak transcription	Fetal Intestine Small	intestine
3	chr22:27971000-27980400	Enhancers	Fetal Muscle Leg	muscle
4	chr22:27973200-27979400	Weak transcription	Pancreas	Pancrea
5	chr22:27973400-27976800	Weak transcription	Fetal Brain Female	brain
6	chr22:27973600-27977000	Weak transcription	Fetal Brain Male	brain
7	chr22:27973800-27977200	Weak transcription	Fetal Lung	lung
8	chr22:27973800-27977200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr22:27973800-27977400	Weak transcription	Ovary	ovary
10	chr22:27973800-27977600	Weak transcription	Brain Germinal Matrix	brain
11	chr22:27973800-27979400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:27973800-27980800	Weak transcription	Right Atrium	heart
13	chr22:27974000-27978600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:27975000-27977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:27975400-27977200	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:27975800-27976800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr22:27975800-27977000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr22:27976000-27977000	Enhancers	Primary hematopoietic stem cells	blood
19	chr22:27976000-27977200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr22:27976200-27976800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:27976400-27977600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:27976400-27979800	Enhancers	Fetal Muscle Trunk	muscle
23	chr22:27976400-27981000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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