Variant report

Variant	rs16986193
Chromosome Location	chr22:28639829-28639830
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10483144	0.90[AFR][1000 genomes]
rs16985901	0.83[AFR][1000 genomes]
rs16985919	0.90[AFR][1000 genomes]
rs16985921	0.90[AFR][1000 genomes]
rs16985986	0.82[AFR][1000 genomes]
rs16986023	0.93[AFR][1000 genomes]
rs16986030	0.93[AFR][1000 genomes]
rs16986041	0.86[AFR][1000 genomes]
rs16986116	0.86[AFR][1000 genomes]
rs16986128	1.00[AFR][1000 genomes]
rs16986168	0.93[AFR][1000 genomes]
rs16986172	0.93[AFR][1000 genomes]
rs16986181	0.93[AFR][1000 genomes]
rs16986219	1.00[AFR][1000 genomes]
rs16986231	1.00[AFR][1000 genomes]
rs16986238	0.93[AFR][1000 genomes]
rs16986240	0.90[AFR][1000 genomes]
rs16986246	1.00[AFR][1000 genomes]
rs16986249	1.00[AFR][1000 genomes]
rs16986259	1.00[AFR][1000 genomes]
rs16986349	1.00[AFR][1000 genomes]
rs2092498	0.93[AFR][1000 genomes]
rs2103601	1.00[AFR][1000 genomes]
rs57301669	0.93[AFR][1000 genomes]
rs58713460	1.00[AFR][1000 genomes]
rs60811750	1.00[AFR][1000 genomes]
rs61317772	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv829147	chr22:28639636-28640341	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28628200-28643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:28628600-28640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:28628600-28640800	Weak transcription	NHLF	lung
5	chr22:28631400-28640800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:28632200-28640200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:28632400-28640800	Weak transcription	Aorta	Aorta
8	chr22:28633600-28640800	Weak transcription	HSMMtube	muscle
9	chr22:28634200-28640800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:28635600-28650800	Weak transcription	Dnd41	blood
11	chr22:28636400-28640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:28638400-28642000	Enhancers	K562	blood
13	chr22:28639000-28640800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:28639400-28640200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr22:28639400-28641200	Enhancers	Fetal Brain Male	brain
16	chr22:28639400-28642200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:28639400-28643200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:28639400-28643600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:28639400-28643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:28639400-28644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:28639400-28644200	Enhancers	Osteobl	bone
22	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
23	chr22:28639600-28640000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:28639600-28640000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:28639600-28640000	Enhancers	NHEK	skin
26	chr22:28639600-28640600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:28639600-28640800	Enhancers	Ovary	ovary
28	chr22:28639600-28641000	Enhancers	Fetal Kidney	kidney
29	chr22:28639600-28641000	Enhancers	Right Atrium	heart
30	chr22:28639600-28641200	Enhancers	Psoas Muscle	Psoas
31	chr22:28639600-28641800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr22:28639600-28641800	Enhancers	NHDF-Ad	bronchial
33	chr22:28639600-28642200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:28639600-28642800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:28639600-28643200	Enhancers	HSMM	muscle
36	chr22:28639600-28644000	Enhancers	NH-A	brain
37	chr22:28639800-28640400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr22:28639800-28640800	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:28639800-28640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr22:28639800-28640800	Weak transcription	Stomach Mucosa	stomach
41	chr22:28639800-28640800	Weak transcription	A549	lung
42	chr22:28639800-28641000	Enhancers	Brain Angular Gyrus	brain
43	chr22:28639800-28641800	Weak transcription	Adipose Nuclei	Adipose
44	chr22:28639800-28643000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr22:28639800-28643000	Weak transcription	Gastric	stomach
46	chr22:28639800-28643000	Weak transcription	Left Ventricle	heart
47	chr22:28639800-28643200	Weak transcription	Right Ventricle	heart

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