Variant report

Variant	rs2842054
Chromosome Location	chr1:69526214-69526215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1039740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064838	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096838	0.85[AMR][1000 genomes]
rs1396023	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1507859	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2494933	1.00[EUR][1000 genomes]
rs2661470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2842044	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2842045	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2842046	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783039	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508271	chr1:69522722-69547369	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69521600-69526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:69521600-69527200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:69525000-69526400	Enhancers	Fetal Lung	lung
4	chr1:69525000-69526800	Enhancers	Brain Germinal Matrix	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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