Variant report

Variant	rs57347173
Chromosome Location	chr1:216253074-216253075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12084498	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089549	1.00[AMR][1000 genomes]
rs55860667	1.00[AMR][1000 genomes]
rs61107444	1.00[AMR][1000 genomes]
rs74141504	1.00[AMR][1000 genomes]
rs74141523	1.00[AMR][1000 genomes]
rs74141528	1.00[AMR][1000 genomes]
rs74143933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143934	1.00[AMR][1000 genomes]
rs74143935	1.00[AMR][1000 genomes]
rs74143936	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	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428599	chr1:216086224-216267211	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873172	chr1:216144827-216281673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216249000-216260200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:216249200-216257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:216252000-216256800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:216252400-216253200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:216252800-216253200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:216252800-216253400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:216253000-216259000	Weak transcription	ES-I3 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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