Variant report

Variant	rs28582765
Chromosome Location	chr21:41418714-41418715
allele	G/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:11)

rs_ID	r²[population]
rs10470193	0.81[EUR][1000 genomes]
rs17755501	1.00[ASN][1000 genomes]
rs2142121	0.87[EUR][1000 genomes]
rs2837383	0.92[EUR][1000 genomes]
rs2837384	0.93[EUR][1000 genomes]
rs2837405	0.88[EUR][1000 genomes]
rs2860103	0.90[EUR][1000 genomes]
rs60556288	1.00[ASN][1000 genomes]
rs62235658	1.00[ASN][1000 genomes]
rs9976662	0.84[EUR][1000 genomes]
rs9979120	0.93[EUR][1000 genomes]

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	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1833464	chr21:41383329-41419524	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41399200-41424600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr21:41401600-41421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:41403800-41421600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:41409800-41421200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:41411200-41421000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:41411200-41428800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:41413000-41421200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:41414000-41419800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:41414400-41421600	Weak transcription	Brain Germinal Matrix	brain
10	chr21:41414600-41421200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr21:41414800-41421400	Weak transcription	Fetal Brain Female	brain
12	chr21:41416000-41421200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:41416200-41421800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:41418200-41420800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr21:41418200-41421400	Enhancers	Colon Smooth Muscle	Colon
16	chr21:41418600-41427600	Enhancers	Rectal Smooth Muscle	rectum

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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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