Variant report

Variant	rs2585412
Chromosome Location	chr20:52758649-52758650
allele	A/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]
rs2585447	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2585448	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2585449	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2585451	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2616277	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2616278	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2616279	0.83[AMR][1000 genomes]
rs2762918	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2762919	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2762920	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2762921	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2762928	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762932	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762933	0.93[ASN][1000 genomes]
rs2762934	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2762935	0.95[ASN][1000 genomes]
rs6022987	0.95[ASN][1000 genomes]
rs751088	0.81[EUR][1000 genomes];0.96[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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv912945	chr20:52746724-52772741	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv912946	chr20:52758416-52772741	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	23 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	chr20:52755600-52758800	Enhancers	HMEC	breast
2	chr20:52755600-52759000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:52758000-52759000	ZNF genes & repeats	A549	lung
4	chr20:52758000-52764200	Weak transcription	NHLF	lung
5	chr20:52758200-52758800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:52758400-52759600	Enhancers	Fetal Muscle Trunk	muscle
7	chr20:52758600-52759000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:52758600-52759000	Enhancers	Fetal Muscle Leg	muscle
9	chr20:52758600-52768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	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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