Variant report

Variant	rs495678
Chromosome Location	chr1:57877905-57877906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs269059	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551757	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs579188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs833615	0.87[AFR][1000 genomes];1.00[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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:57871000-57887600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57874200-57878400	Enhancers	Hela-S3	cervix
3	chr1:57876200-57878200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:57876200-57883800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:57876400-57878200	Weak transcription	Fetal Brain Female	brain
6	chr1:57876400-57880800	Weak transcription	Fetal Brain Male	brain
7	chr1:57877000-57878400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:57877200-57878000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:57877600-57878400	Weak transcription	Fetal Heart	heart

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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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