Variant report

Variant	rs73118753
Chromosome Location	chr2:234826625-234826626
allele	C/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]
rs28900714	0.88[ASN][1000 genomes]
rs28900723	0.93[ASN][1000 genomes]
rs28900724	0.93[ASN][1000 genomes]
rs28900978	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28901606	0.95[ASN][1000 genomes]
rs28902471	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28948394	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3771333	0.86[ASN][1000 genomes]
rs56262514	0.93[ASN][1000 genomes]
rs58339824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60573749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234825000-234827200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234826200-234830000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:234826400-234827600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:234826600-234826800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:234826600-234826800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:234826600-234827600	Enhancers	Cortex 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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