Variant report

Variant	rs534191888
Chromosome Location	chr21:40828787-40828788
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:

Variant related genes	Relation type
ENSG00000157578	Chromatin interaction
ENSG00000185437	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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
4	esv3405422	chr21:40828732-40830080	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
2	chr21:40825000-40847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:40825400-40828800	Enhancers	Brain Anterior Caudate	brain
4	chr21:40825400-40829600	Weak transcription	Aorta	Aorta
5	chr21:40825600-40836800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:40825800-40828800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:40826200-40828800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr21:40826400-40828800	Enhancers	Brain Angular Gyrus	brain
9	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
10	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:40827600-40831400	Weak transcription	Psoas Muscle	Psoas
12	chr21:40827800-40829000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr21:40827800-40835200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:40828200-40839600	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:40828400-40835400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr21:40828600-40828800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:40828600-40828800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:40828600-40828800	Enhancers	Right Ventricle	heart
19	chr21:40828600-40829000	Enhancers	Fetal Heart	heart
20	chr21:40828600-40835400	Weak transcription	Left Ventricle	heart
21	chr21:40828600-40835600	Weak transcription	Brain Hippocampus Middle	brain
22	chr21:40828600-40847400	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links