Variant report

Variant	rs4822881
Chromosome Location	chr22:27852867-27852868
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12157480	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4820758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4822883	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4822884	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5752551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762176	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6005451	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61402459	0.88[ASN][1000 genomes]
rs8136063	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv471192	chr22:27821656-27865344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv459865	chr22:27852183-27867567	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv588876	chr22:27852183-27867567	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4822881	ADORA2A	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27849800-27854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:27850800-27853200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:27851000-27853200	Enhancers	NHEK	skin
4	chr22:27851000-27855000	Enhancers	HMEC	breast
5	chr22:27851000-27855400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:27851000-27856000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:27851200-27855000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:27851200-27857400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:27851200-27857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:27851200-27857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:27851800-27855800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:27852000-27853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:27852200-27854200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:27852200-27854200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:27852400-27854400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr22:27852600-27853000	Enhancers	Osteobl	bone
17	chr22:27852600-27853200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:27852600-27853800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:27852600-27853800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:27852600-27853800	Enhancers	A549	lung
21	chr22:27852600-27853800	Enhancers	NHLF	lung
22	chr22:27852600-27854000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:27852600-27854000	Enhancers	NH-A	brain
24	chr22:27852600-27854000	Enhancers	NHDF-Ad	bronchial
25	chr22:27852600-27854200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:27852600-27855000	Enhancers	HSMM	muscle
27	chr22:27852600-27858400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr22:27852800-27853000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr22:27852800-27853000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr22:27852800-27853000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:27852800-27853600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr22:27852800-27853600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr22:27852800-27853800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:27852800-27853800	Enhancers	HSMMtube	muscle
35	chr22:27852800-27854000	Enhancers	HUVEC	blood vessel
36	chr22:27852800-27854200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:27852800-27854400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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