Variant report

Variant	rs73942251
Chromosome Location	chr2:58180299-58180300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1518402	0.90[AFR][1000 genomes]
rs17049347	1.00[AMR][1000 genomes]
rs17049370	1.00[AMR][1000 genomes]
rs17049374	1.00[AMR][1000 genomes]
rs55925609	1.00[AMR][1000 genomes]
rs56878245	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59264390	1.00[AMR][1000 genomes]
rs59299963	1.00[AMR][1000 genomes]
rs59871174	1.00[AMR][1000 genomes]
rs59983111	0.95[AFR][1000 genomes]
rs60712586	0.95[AFR][1000 genomes]
rs60912631	1.00[AMR][1000 genomes]
rs61126591	1.00[AMR][1000 genomes]
rs61415878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942277	0.95[AFR][1000 genomes]
rs73942281	1.00[AMR][1000 genomes]
rs73944812	1.00[AMR][1000 genomes]
rs73944819	1.00[AMR][1000 genomes]
rs73944823	1.00[AMR][1000 genomes]
rs7587116	1.00[AMR][1000 genomes]
rs7587229	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010981	chr2:58013389-58205699	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv874200	chr2:58163178-58262016	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 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	chr2:58179800-58180400	Enhancers	GM12878-XiMat	blood
2	chr2:58180000-58180400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured 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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