Variant report

Variant	rs79034978
Chromosome Location	chr21:40828382-40828383
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	chr21:40820536..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: 14 )

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

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs79034978	SH3BGR	cis	Skin Sun Exposed Lower leg	GTEx
rs79034978	SH3BGR	cis	Adipose Subcutaneous	GTEx
rs79034978	WRB	cis	Adipose Subcutaneous	GTEx
rs79034978	LCA5L	cis	lung	GTEx
rs79034978	LCA5L	cis	Artery Tibial	GTEx
rs79034978	LCA5L	cis	Esophagus Muscularis	GTEx
rs79034978	SH3BGR	cis	Artery Tibial	GTEx
rs79034978	LCA5L	cis	Nerve Tibial	GTEx
rs79034978	LCA5L	cis	Thyroid	GTEx
rs79034978	WRB	cis	Artery Tibial	GTEx
rs79034978	WRB	cis	Nerve Tibial	GTEx
rs79034978	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs79034978	LCA5L	cis	Skin Sun Exposed Lower leg	GTEx
rs79034978	WRB	cis	lung	GTEx

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	chr21:40824800-40828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:40825000-40847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:40825200-40828400	Enhancers	Brain Cingulate Gyrus	brain
6	chr21:40825400-40828600	Enhancers	Brain Hippocampus Middle	brain
7	chr21:40825400-40828800	Enhancers	Brain Anterior Caudate	brain
8	chr21:40825400-40829600	Weak transcription	Aorta	Aorta
9	chr21:40825600-40836800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:40825800-40828600	Enhancers	Brain Substantia Nigra	brain
11	chr21:40825800-40828800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:40826200-40828800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr21:40826400-40828600	Enhancers	Left Ventricle	heart
14	chr21:40826400-40828800	Enhancers	Brain Angular Gyrus	brain
15	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
16	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:40827600-40831400	Weak transcription	Psoas Muscle	Psoas
18	chr21:40827800-40828400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr21:40827800-40829000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr21:40827800-40835200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr21:40828000-40828400	Enhancers	Fetal Heart	heart
22	chr21:40828000-40828600	Enhancers	Fetal Brain Male	brain
23	chr21:40828200-40839600	Weak transcription	Fetal Muscle Leg	muscle

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