Variant report

Variant	rs16986471
Chromosome Location	chr22:28876255-28876256
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483149	0.97[AFR][1000 genomes]
rs16986374	0.97[AFR][1000 genomes]
rs16986390	0.97[AFR][1000 genomes]
rs16986392	0.97[AFR][1000 genomes]
rs16986403	0.97[AFR][1000 genomes]
rs16986405	0.97[AFR][1000 genomes]
rs16986408	0.97[AFR][1000 genomes]
rs16986409	0.97[AFR][1000 genomes]
rs16986410	0.97[AFR][1000 genomes]
rs16986419	0.90[AFR][1000 genomes]
rs16986422	0.97[AFR][1000 genomes]
rs16986425	0.97[AFR][1000 genomes]
rs16986433	0.80[AFR][1000 genomes]
rs16986435	1.00[AFR][1000 genomes]
rs16986438	0.80[AFR][1000 genomes]
rs16986449	1.00[AFR][1000 genomes]
rs16986454	1.00[AFR][1000 genomes]
rs16986458	0.94[AFR][1000 genomes]
rs16986480	1.00[AFR][1000 genomes]
rs16986487	1.00[AFR][1000 genomes]
rs16986494	1.00[AFR][1000 genomes]
rs16986542	1.00[AFR][1000 genomes]
rs16986546	1.00[AFR][1000 genomes]
rs17881716	0.93[AFR][1000 genomes]
rs57188662	0.84[AFR][1000 genomes]
rs58065411	1.00[AFR][1000 genomes]
rs58858940	1.00[AFR][1000 genomes]
rs59463287	1.00[AFR][1000 genomes]
rs60435869	1.00[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	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
2	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
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28861600-28880200	Weak transcription	Ovary	ovary
2	chr22:28874000-28878600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:28874800-28876600	Enhancers	Dnd41	blood
4	chr22:28875000-28879000	Enhancers	Fetal Brain Male	brain
5	chr22:28875200-28878000	Enhancers	Fetal Lung	lung
6	chr22:28875600-28876400	Enhancers	Fetal Stomach	stomach
7	chr22:28875800-28878400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr22:28876000-28876600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:28876000-28876600	Enhancers	Brain Hippocampus Middle	brain
10	chr22:28876000-28876600	Flanking Active TSS	Fetal Brain Female	brain
11	chr22:28876000-28876800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr22:28876000-28876800	Enhancers	Brain Cingulate Gyrus	brain
13	chr22:28876000-28877000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:28876000-28877200	Enhancers	Fetal Kidney	kidney
15	chr22:28876000-28878000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:28876000-28878000	Enhancers	Brain Germinal Matrix	brain
17	chr22:28876200-28876600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr22:28876200-28876600	Enhancers	HSMM	muscle
19	chr22:28876200-28878000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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