Variant report

Variant	rs62380101
Chromosome Location	chr5:116808936-116808937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11741845	0.88[ASN][1000 genomes]
rs11750751	0.86[ASN][1000 genomes]
rs12652595	0.83[ASN][1000 genomes]
rs12656922	0.84[ASN][1000 genomes]
rs17141815	0.84[ASN][1000 genomes]
rs56325279	0.84[ASN][1000 genomes]
rs56871737	0.84[ASN][1000 genomes]
rs62380096	0.84[ASN][1000 genomes]
rs62380128	0.84[ASN][1000 genomes]
rs6886520	0.84[ASN][1000 genomes]
rs7726548	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830457	chr5:116724777-116875060	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv882756	chr5:116783660-116905052	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116807800-116809000	Weak transcription	Brain Germinal Matrix	brain
2	chr5:116808400-116809400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:116808600-116809200	Enhancers	Fetal Brain Female	brain
4	chr5:116808600-116809400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:116808600-116810000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:116808800-116809200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:116808800-116809200	Enhancers	Brain Substantia Nigra	brain
8	chr5:116808800-116809400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:116808800-116809800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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