Variant report

Variant	rs66497972
Chromosome Location	chr1:226511313-226511314
allele	C/T
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:12)

rs_ID	r²[population]
rs10915975	0.84[ASN][1000 genomes]
rs11583305	0.80[ASN][1000 genomes]
rs11799818	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11800726	0.88[EUR][1000 genomes]
rs11805809	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58027411	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61101869	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61642967	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61836916	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66554885	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6662737	0.84[ASN][1000 genomes]
rs6670767	0.84[ASN][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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr1:226507600-226512600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:226509200-226512000	Enhancers	Placenta	Placenta
3	chr1:226510400-226511800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:226510600-226511600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:226511200-226512800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:226511200-226512800	Weak transcription	HMEC	breast

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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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