Variant report

Variant	rs16997693
Chromosome Location	chr21:40849551-40849552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40842346..40845248-chr21:40847999..40850536,2	K562	blood:
2	chr21:40845066..40847673-chr21:40849022..40851771,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16997709	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997761	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16997763	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16997765	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16997766	0.94[EUR][1000 genomes]
rs16997767	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17406216	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17408203	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7281891	0.90[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
2	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
3	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:40829800-40856200	Weak transcription	Aorta	Aorta
5	chr21:40830200-40849800	Weak transcription	Primary T cells from cord blood	blood
6	chr21:40835600-40851000	Weak transcription	Ovary	ovary
7	chr21:40836200-40851000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:40836200-40852200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:40836400-40851400	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
11	chr21:40838800-40849800	Weak transcription	Liver	Liver
12	chr21:40844800-40855800	Weak transcription	Adipose Nuclei	Adipose
13	chr21:40845000-40851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:40845000-40856600	Weak transcription	Colon Smooth Muscle	Colon
15	chr21:40846800-40854600	Weak transcription	Psoas Muscle	Psoas
16	chr21:40846800-40862800	Weak transcription	Gastric	stomach
17	chr21:40847000-40850200	Weak transcription	Fetal Heart	heart
18	chr21:40847800-40850400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:40848000-40851000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr21:40848200-40851600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:40848200-40852200	Weak transcription	Brain Angular Gyrus	brain
22	chr21:40848200-40852400	Weak transcription	Brain Anterior Caudate	brain
23	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr21:40848400-40851400	Weak transcription	Brain Substantia Nigra	brain
25	chr21:40848400-40853800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr21:40848400-40863600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr21:40848400-40872400	Weak transcription	Left Ventricle	heart

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