Variant report

Variant	rs16986374
Chromosome Location	chr22:28797994-28797995
allele	C/T
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]
rs10483149	1.00[AFR][1000 genomes]
rs16986390	1.00[AFR][1000 genomes]
rs16986392	1.00[AFR][1000 genomes]
rs16986403	1.00[AFR][1000 genomes]
rs16986405	1.00[AFR][1000 genomes]
rs16986408	1.00[AFR][1000 genomes]
rs16986409	1.00[AFR][1000 genomes]
rs16986410	1.00[AFR][1000 genomes]
rs16986419	0.93[AFR][1000 genomes]
rs16986422	1.00[AFR][1000 genomes]
rs16986425	1.00[AFR][1000 genomes]
rs16986435	0.97[AFR][1000 genomes]
rs16986449	0.97[AFR][1000 genomes]
rs16986454	0.97[AFR][1000 genomes]
rs16986458	0.90[AFR][1000 genomes]
rs16986471	0.97[AFR][1000 genomes]
rs16986480	0.97[AFR][1000 genomes]
rs16986487	0.97[AFR][1000 genomes]
rs16986494	0.97[AFR][1000 genomes]
rs16986542	0.97[AFR][1000 genomes]
rs16986546	0.97[AFR][1000 genomes]
rs17881716	0.90[AFR][1000 genomes]
rs57188662	0.81[AFR][1000 genomes]
rs58065411	0.97[AFR][1000 genomes]
rs58858940	0.97[AFR][1000 genomes]
rs59463287	0.97[AFR][1000 genomes]
rs60435869	0.97[AFR][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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28791400-28800400	Weak transcription	Fetal Muscle Leg	muscle
2	chr22:28792600-28801800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:28792800-28805200	Weak transcription	Fetal Intestine Large	intestine
4	chr22:28793000-28798000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr22:28793000-28808200	Weak transcription	Aorta	Aorta
6	chr22:28793000-28808600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:28793000-28814000	Weak transcription	Left Ventricle	heart
8	chr22:28793000-28819800	Weak transcription	Fetal Intestine Small	intestine
9	chr22:28793400-28806200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:28794200-28806000	Weak transcription	NHDF-Ad	bronchial
11	chr22:28794600-28804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:28794600-28804800	Weak transcription	Fetal Stomach	stomach
13	chr22:28794600-28806000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:28794600-28806000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:28795000-28803400	Weak transcription	Brain Anterior Caudate	brain
16	chr22:28795200-28798000	Weak transcription	Dnd41	blood
17	chr22:28795200-28803200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr22:28795400-28798000	Weak transcription	Brain Substantia Nigra	brain
19	chr22:28795400-28798200	Weak transcription	Brain Hippocampus Middle	brain
20	chr22:28796200-28798000	Weak transcription	Fetal Lung	lung
21	chr22:28796600-28802200	Weak transcription	Fetal Brain Female	brain
22	chr22:28797400-28798200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr22:28797400-28799000	Enhancers	Psoas Muscle	Psoas
24	chr22:28797600-28798200	Enhancers	Brain Angular Gyrus	brain
25	chr22:28797600-28798400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:28797800-28798800	Enhancers	Fetal Brain Male	brain

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