Variant report

Variant	rs12142819
Chromosome Location	chr1:210741816-210741817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12122837	0.83[AMR][1000 genomes]
rs12124286	0.81[AMR][1000 genomes]
rs12130516	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12131405	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12139453	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12748330	0.82[ASN][1000 genomes]
rs12754753	0.83[AMR][1000 genomes]
rs17188344	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17188367	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357920	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34226838	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34542042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35415526	0.85[ASN][1000 genomes]
rs4344331	0.83[AMR][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1014480	chr1:210717288-210743026	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210730000-210742400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:210739400-210753000	Weak transcription	HSMMtube	muscle
3	chr1:210741600-210742400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:210741600-210742400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:210741800-210742400	Enhancers	A549	lung

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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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