Variant report

Variant	rs73450794
Chromosome Location	chr18:39182474-39182475
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]
rs16974839	1.00[AMR][1000 genomes]
rs16975008	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975055	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975082	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59084822	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60931843	1.00[AMR][1000 genomes]
rs73444567	1.00[AMR][1000 genomes]
rs73444592	1.00[AMR][1000 genomes]
rs73446513	1.00[AMR][1000 genomes]
rs73450744	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73450745	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73450753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73450772	1.00[AMR][1000 genomes]
rs73452787	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456781	0.80[AFR][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	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer 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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39174800-39190400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:39182400-39182600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:39182400-39183000	Enhancers	Fetal Heart	heart

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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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