Variant report

Variant	rs859476
Chromosome Location	chr1:175389466-175389467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1102653	0.91[EUR][1000 genomes]
rs1385542	0.93[EUR][1000 genomes]
rs2097462	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2859047	0.94[EUR][1000 genomes]
rs4652090	0.89[ASN][1000 genomes]
rs6677247	0.90[ASN][1000 genomes]
rs6698243	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6701695	0.88[ASN][1000 genomes]
rs743904	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7514113	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs859462	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs859463	0.91[EUR][1000 genomes]
rs859474	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859475	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859479	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860907	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2764232	chr1:175387997-175504394	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175370000-175390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175385000-175390200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:175388800-175389800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:175388800-175393000	Enhancers	Fetal Intestine Small	intestine
5	chr1:175389000-175389600	Flanking Active TSS	Hela-S3	cervix
6	chr1:175389000-175389600	Enhancers	HMEC	breast
7	chr1:175389000-175389800	Enhancers	NHEK	skin
8	chr1:175389400-175389800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:175389400-175390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:175389400-175394000	Enhancers	Fetal Intestine Large	intestine

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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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