Variant report

Variant	rs56089630
Chromosome Location	chr21:41405410-41405411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10483062	1.00[EUR][1000 genomes]
rs11909335	1.00[EUR][1000 genomes]
rs16999158	1.00[EUR][1000 genomes]
rs16999285	1.00[EUR][1000 genomes]
rs16999304	1.00[EUR][1000 genomes]
rs16999311	1.00[EUR][1000 genomes]
rs16999325	1.00[EUR][1000 genomes]
rs16999354	1.00[EUR][1000 genomes]
rs2837325	1.00[EUR][1000 genomes]
rs61387604	1.00[ASN][1000 genomes]
rs73908404	1.00[EUR][1000 genomes]
rs73908405	1.00[EUR][1000 genomes]
rs8131288	1.00[EUR][1000 genomes]
rs8133011	1.00[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	chr21:41385800-41413400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:41386000-41414000	Weak transcription	Fetal Brain Female	brain
3	chr21:41399200-41424600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:41400000-41418000	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:41401600-41421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:41402600-41413800	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:41403200-41405600	Weak transcription	Fetal Brain Male	brain
8	chr21:41403800-41421600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr21:41404800-41405600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr21:41404800-41405600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr21:41405000-41405600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr21:41405200-41405600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:41405400-41405600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr21:41405400-41405600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:41405400-41405600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr21:41405400-41411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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