Variant report

Variant	rs62444604
Chromosome Location	chr7:14428481-14428482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58696251	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62444601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62444603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62444606	1.00[AMR][1000 genomes];1.00[EUR][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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv606281	chr7:14388381-14443963	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14425400-14428800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:14426400-14428600	Weak transcription	Fetal Heart	heart
3	chr7:14428200-14429200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:14428400-14429400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:14428400-14429400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:14428400-14429400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:14428400-14429600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:14428400-14429800	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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