Variant report

Variant	rs252683
Chromosome Location	chr5:106675084-106675085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1195945	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1212393	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs166159	0.89[ASN][1000 genomes]
rs173756	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173758	0.88[ASN][1000 genomes]
rs185211	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs252674	0.88[ASN][1000 genomes]
rs252675	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs252676	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs252679	0.94[ASN][1000 genomes]
rs252680	0.96[ASN][1000 genomes]
rs252681	0.93[ASN][1000 genomes]
rs252682	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs252698	0.88[ASN][1000 genomes]
rs252699	0.88[ASN][1000 genomes]
rs412541	0.96[ASN][1000 genomes]
rs423882	0.91[ASN][1000 genomes]
rs444702	0.90[EUR][1000 genomes];0.95[ASN][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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr5:106673200-106676400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:106673200-106676400	Weak transcription	Fetal Stomach	stomach
3	chr5:106674200-106676200	Weak transcription	HMEC	breast
4	chr5:106674400-106676200	Weak transcription	NHEK	skin
5	chr5:106674400-106676400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:106674600-106675200	Enhancers	Ovary	ovary
7	chr5:106674600-106675800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:106674800-106676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:106675000-106675200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links