Variant report

Variant	rs67569557
Chromosome Location	chr2:53354370-53354371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17044078	0.95[EUR][1000 genomes]
rs17044082	0.81[EUR][1000 genomes]
rs17044107	0.98[EUR][1000 genomes]
rs17044109	0.92[EUR][1000 genomes]
rs17044113	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58330496	0.98[EUR][1000 genomes]
rs60327066	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60398014	0.91[EUR][1000 genomes]
rs66702426	0.94[EUR][1000 genomes]
rs66801688	0.94[EUR][1000 genomes]
rs67002523	0.85[EUR][1000 genomes]
rs67051768	0.84[EUR][1000 genomes]
rs67901982	0.95[EUR][1000 genomes]
rs68139522	0.86[EUR][1000 genomes]
rs72797245	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1011118	chr2:53328397-53375220	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53338400-53362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53353600-53355000	Enhancers	Fetal Intestine Small	intestine
3	chr2:53353600-53355200	Enhancers	Fetal Intestine Large	intestine
4	chr2:53354000-53354400	Enhancers	Fetal Heart	heart
5	chr2:53354000-53354400	Enhancers	Fetal Lung	lung
6	chr2:53354000-53354600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:53354000-53354800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:53354200-53354400	Enhancers	Brain Germinal Matrix	brain
9	chr2:53354200-53354600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:53354200-53354600	Enhancers	NHEK	skin

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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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