Variant report

Variant	rs16986240
Chromosome Location	chr22:28665109-28665110
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483144	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs10483149	0.91[YRI][hapmap]
rs16985919	0.81[AFR][1000 genomes]
rs16985921	0.81[AFR][1000 genomes]
rs16986023	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs16986030	0.84[AFR][1000 genomes]
rs16986041	0.91[YRI][hapmap]
rs16986128	0.90[AFR][1000 genomes]
rs16986168	0.97[AFR][1000 genomes]
rs16986172	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16986181	0.97[AFR][1000 genomes]
rs16986193	0.90[AFR][1000 genomes]
rs16986219	0.90[AFR][1000 genomes]
rs16986231	0.90[AFR][1000 genomes]
rs16986238	0.97[AFR][1000 genomes]
rs16986246	0.90[AFR][1000 genomes]
rs16986249	0.90[AFR][1000 genomes]
rs16986259	0.90[AFR][1000 genomes]
rs16986349	0.90[AFR][1000 genomes]
rs16986405	0.91[YRI][hapmap]
rs16986435	0.91[YRI][hapmap]
rs2092498	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs2103601	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs57301669	0.84[AFR][1000 genomes]
rs58713460	0.90[AFR][1000 genomes]
rs60811750	0.90[AFR][1000 genomes]
rs9625433	0.91[YRI][hapmap]

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	chr22:28651800-28690600	Weak transcription	Dnd41	blood
2	chr22:28653000-28671600	Weak transcription	Fetal Stomach	stomach
3	chr22:28656800-28666000	Weak transcription	Small Intestine	intestine
4	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:28659400-28671200	Weak transcription	Fetal Lung	lung
6	chr22:28662400-28665400	Enhancers	Psoas Muscle	Psoas
7	chr22:28662400-28665800	Enhancers	Adipose Nuclei	Adipose
8	chr22:28662400-28666200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr22:28662600-28665400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr22:28662800-28666200	Enhancers	Colon Smooth Muscle	Colon
11	chr22:28662800-28671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:28662800-28671200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:28663000-28665400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:28663000-28671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:28663800-28665600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:28664000-28666000	Enhancers	Right Ventricle	heart
17	chr22:28664200-28665800	Enhancers	Rectal Smooth Muscle	rectum
18	chr22:28664400-28665800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:28664400-28666400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:28664400-28671800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:28664400-28674800	Weak transcription	NHDF-Ad	bronchial
22	chr22:28664600-28665200	Weak transcription	Aorta	Aorta
23	chr22:28665000-28665200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr22:28665000-28665200	Enhancers	Left Ventricle	heart
25	chr22:28665000-28665400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:28665000-28665400	Enhancers	Fetal Muscle Leg	muscle
27	chr22:28665000-28665400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr22:28665000-28665800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr22:28665000-28665800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr22:28665000-28666200	Enhancers	Brain Inferior Temporal Lobe	brain

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