Variant report

Variant	rs16986165
Chromosome Location	chr22:28625406-28625407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10483147	1.00[AMR][1000 genomes]
rs16986186	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16986234	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57490474	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60360755	1.00[AMR][1000 genomes]
rs73882719	1.00[AMR][1000 genomes]
rs73882722	1.00[AMR][1000 genomes]
rs73882723	1.00[AMR][1000 genomes]
rs73882724	1.00[AMR][1000 genomes]
rs7511189	1.00[AMR][1000 genomes]
rs995486	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	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28612200-28625600	Weak transcription	Aorta	Aorta
2	chr22:28612200-28634800	Weak transcription	Dnd41	blood
3	chr22:28615800-28626400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:28617600-28626200	Weak transcription	Psoas Muscle	Psoas
5	chr22:28618400-28626800	Weak transcription	Fetal Kidney	kidney
6	chr22:28618400-28639600	Weak transcription	Ovary	ovary
7	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
8	chr22:28619000-28626000	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:28619200-28626400	Weak transcription	Fetal Lung	lung
10	chr22:28619400-28625600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:28619400-28631000	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:28620400-28625600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:28620400-28625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:28620400-28625600	Weak transcription	Fetal Muscle Leg	muscle
15	chr22:28620400-28626000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:28620400-28639200	Weak transcription	Left Ventricle	heart
17	chr22:28625000-28626000	Enhancers	Osteobl	bone
18	chr22:28625200-28625600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:28625200-28626000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:28625200-28626000	Enhancers	HSMMtube	muscle
21	chr22:28625200-28626000	Enhancers	NHDF-Ad	bronchial
22	chr22:28625200-28626200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:28625400-28626000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:28625400-28626000	Enhancers	Rectal Smooth Muscle	rectum
25	chr22:28625400-28626600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:28625400-28628400	Enhancers	Adipose Nuclei	Adipose
27	chr22:28625400-28628600	Enhancers	HSMM	muscle
28	chr22:28625400-28628600	Enhancers	NHLF	lung

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