Variant report

Variant	rs60523812
Chromosome Location	chr1:221162249-221162250
allele	C/T
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:19)

rs_ID	r²[population]
rs17009202	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4587571	0.92[EUR][1000 genomes]
rs57878357	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58324444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58487387	0.92[EUR][1000 genomes]
rs60162378	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60688199	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60884344	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693203	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097451	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097456	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73097458	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73097461	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097472	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097476	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097478	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73097479	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7515981	0.92[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221158000-221164400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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