Variant report

Variant	rs71325290
Chromosome Location	chr22:28742431-28742432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13054496	0.82[EUR][1000 genomes]
rs13054508	0.88[EUR][1000 genomes]
rs13055501	0.82[EUR][1000 genomes]
rs13056121	0.82[EUR][1000 genomes]
rs13056319	0.88[EUR][1000 genomes]
rs13056425	0.94[EUR][1000 genomes]
rs13057182	0.88[EUR][1000 genomes]
rs13057685	0.97[EUR][1000 genomes]
rs13057692	1.00[EUR][1000 genomes]
rs13058473	0.94[EUR][1000 genomes]
rs16986197	0.86[EUR][1000 genomes]
rs2142917	0.83[EUR][1000 genomes]
rs34176007	0.94[EUR][1000 genomes]
rs34262300	0.88[EUR][1000 genomes]
rs34364992	0.88[AFR][1000 genomes]
rs34453094	0.88[EUR][1000 genomes]
rs34783791	0.94[EUR][1000 genomes]
rs34925495	0.94[EUR][1000 genomes]
rs34962554	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34994167	0.82[EUR][1000 genomes]
rs35051985	0.88[EUR][1000 genomes]
rs35719457	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35738822	0.82[EUR][1000 genomes]
rs35812775	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7286202	0.82[EUR][1000 genomes]
rs8142398	0.88[EUR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28736000-28744200	Weak transcription	Lung	lung
2	chr22:28736400-28746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:28737200-28742600	Weak transcription	Dnd41	blood
4	chr22:28737200-28747200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:28737400-28744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:28737800-28744800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:28738000-28751600	Weak transcription	Left Ventricle	heart
8	chr22:28738800-28744200	Weak transcription	Fetal Brain Male	brain
9	chr22:28740200-28743000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:28740800-28742800	Enhancers	HSMMtube	muscle
11	chr22:28741200-28742800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr22:28741400-28742800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr22:28741400-28744000	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:28741600-28743200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:28741600-28743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:28741600-28744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:28741600-28744800	Weak transcription	Ovary	ovary
18	chr22:28741600-28747600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr22:28741600-28752000	Weak transcription	HSMM	muscle
20	chr22:28741600-28753200	Weak transcription	Brain Germinal Matrix	brain
21	chr22:28741600-28759000	Weak transcription	Fetal Stomach	stomach
22	chr22:28742000-28745000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:28742200-28742600	Enhancers	Fetal Brain Female	brain
24	chr22:28742200-28742800	Enhancers	Fetal Heart	heart
25	chr22:28742200-28742800	Enhancers	Right Ventricle	heart
26	chr22:28742400-28742600	Enhancers	Pancreas	Pancrea
27	chr22:28742400-28742600	Enhancers	Right Atrium	heart
28	chr22:28742400-28742800	Enhancers	Fetal Muscle Leg	muscle
29	chr22:28742400-28742800	Enhancers	Psoas Muscle	Psoas
30	chr22:28742400-28745000	Weak transcription	Fetal Lung	lung

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