Variant report

Variant	rs16997709
Chromosome Location	chr21:40854954-40854955
allele	C/T
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:9)

rs_ID	r²[population]
rs16997693	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16997763	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16997765	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16997766	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16997767	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17406216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17408203	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7281891	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1067330	chr21:40841948-40879552	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2755103	chr21:40847196-40877805	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 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	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr21:40829800-40856200	Weak transcription	Aorta	Aorta
3	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
4	chr21:40844800-40855800	Weak transcription	Adipose Nuclei	Adipose
5	chr21:40845000-40856600	Weak transcription	Colon Smooth Muscle	Colon
6	chr21:40846800-40862800	Weak transcription	Gastric	stomach
7	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr21:40848400-40863600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:40848400-40872400	Weak transcription	Left Ventricle	heart
10	chr21:40850400-40859200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:40852600-40855000	Weak transcription	Fetal Heart	heart
12	chr21:40852600-40863400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:40853000-40862200	Weak transcription	Brain Anterior Caudate	brain
14	chr21:40853000-40865800	Weak transcription	Brain Hippocampus Middle	brain
15	chr21:40853800-40857000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr21:40853800-40857200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr21:40854400-40857600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr21:40854600-40855000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:40854600-40855000	Enhancers	Psoas Muscle	Psoas

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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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