Variant report

Variant	rs57105953
Chromosome Location	chr1:224293435-224293436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12239040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57441274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59738860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60172546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60877434	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60998173	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61022093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122502	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124414	0.97[AFR][1000 genomes]
rs73124430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124474	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124499	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73126403	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73126432	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7546034	0.98[AFR][1000 genomes];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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr1:224289800-224294200	Weak transcription	K562	blood
2	chr1:224291600-224301600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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