Variant report

Variant	rs17099731
Chromosome Location	chr1:86787767-86787768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12047843	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12725661	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12741127	1.00[EUR][1000 genomes]
rs1334141	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2225669	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34101562	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34770429	0.98[EUR][1000 genomes]
rs35097112	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35340918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35462810	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35846067	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36036063	1.00[EUR][1000 genomes]
rs384122	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs418289	1.00[EUR][1000 genomes]
rs433577	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4592241	1.00[EUR][1000 genomes]
rs569119	0.98[EUR][1000 genomes]
rs9433456	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86770600-86789800	Weak transcription	Fetal Lung	lung
2	chr1:86787600-86787800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:86787600-86788400	Enhancers	Foreskin Melanocyte Primary Cells skin03	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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