Variant report

Variant	rs59254815
Chromosome Location	chr1:210223020-210223021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10127635	0.84[AMR][1000 genomes]
rs11119393	0.89[AMR][1000 genomes]
rs11119395	0.89[AMR][1000 genomes]
rs11119397	0.89[AMR][1000 genomes]
rs11119402	0.84[AFR][1000 genomes]
rs11119405	0.84[AMR][1000 genomes]
rs11119408	0.84[AMR][1000 genomes]
rs11119411	0.84[AMR][1000 genomes]
rs12059259	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12079711	0.89[AMR][1000 genomes]
rs12082067	0.89[AMR][1000 genomes]
rs12089636	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12093254	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1413698	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1591300	0.89[AMR][1000 genomes]
rs17015561	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2130626	0.84[AMR][1000 genomes]
rs2130627	0.84[AMR][1000 genomes]
rs2130628	0.84[AMR][1000 genomes]
rs35046399	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56733441	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs58775140	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59904008	0.84[AMR][1000 genomes]
rs6540577	0.89[AMR][1000 genomes]
rs7536495	0.89[AMR][1000 genomes]
rs978754	0.89[AMR][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210213000-210223800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:210221000-210223600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:210221400-210243200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:210222000-210223800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:210222400-210224000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210222600-210223400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:210223000-210223400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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