Variant report

Variant	rs145814990
Chromosome Location	chr21:40828517-40828518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40816194..40819113-chr21:40826557..40830216,3	K562	blood:
2	chr21:40821968..40825719-chr21:40825995..40830907,7	K562	blood:
3	chr21:40544095..40546729-chr21:40827156..40828956,2	K562	blood:
4	chr21:40818424..40820696-chr21:40828473..40830709,2	K562	blood:
5	chr21:40820536..40825890-chr21:40826084..40828688,4	K562	blood:

Variant related genes	Relation type
ENSG00000157578	Chromatin interaction
ENSG00000185437	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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	esv3446066	chr21:40828257-40830530	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40822800-40828600	Active TSS	Right Ventricle	heart
2	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
3	chr21:40825000-40847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:40825400-40828600	Enhancers	Brain Hippocampus Middle	brain
5	chr21:40825400-40828800	Enhancers	Brain Anterior Caudate	brain
6	chr21:40825400-40829600	Weak transcription	Aorta	Aorta
7	chr21:40825600-40836800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:40825800-40828600	Enhancers	Brain Substantia Nigra	brain
9	chr21:40825800-40828800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:40826200-40828800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr21:40826400-40828600	Enhancers	Left Ventricle	heart
12	chr21:40826400-40828800	Enhancers	Brain Angular Gyrus	brain
13	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
14	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:40827600-40831400	Weak transcription	Psoas Muscle	Psoas
16	chr21:40827800-40829000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr21:40827800-40835200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr21:40828000-40828600	Enhancers	Fetal Brain Male	brain
19	chr21:40828200-40839600	Weak transcription	Fetal Muscle Leg	muscle
20	chr21:40828400-40828600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:40828400-40828600	Flanking Active TSS	Fetal Heart	heart
22	chr21:40828400-40828600	Enhancers	Fetal Muscle Trunk	muscle
23	chr21:40828400-40835400	Weak transcription	Brain Cingulate Gyrus	brain

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