Variant report

Variant	rs59804672
Chromosome Location	chr1:224665238-224665239
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10495218	0.85[AMR][1000 genomes]
rs11800357	0.85[AMR][1000 genomes]
rs11804538	0.85[AMR][1000 genomes]
rs1317205	0.92[AMR][1000 genomes]
rs16848356	0.92[AMR][1000 genomes]
rs16848382	0.92[AMR][1000 genomes]
rs16848794	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2211327	0.85[AMR][1000 genomes]
rs4559465	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58243680	0.92[AMR][1000 genomes]
rs61590597	0.85[AMR][1000 genomes]
rs6687735	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73125533	0.92[AMR][1000 genomes]
rs73125540	0.85[AMR][1000 genomes]
rs73125543	0.92[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224662600-224668800	Weak transcription	Esophagus	oesophagus
2	chr1:224664400-224668600	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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