Variant report

Variant	rs443074
Chromosome Location	chr19:44477082-44477083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs364378	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs364693	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs367056	0.89[AMR][1000 genomes]
rs373043	0.89[AMR][1000 genomes]
rs374421	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376769	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs382715	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs391596	0.89[AMR][1000 genomes]
rs393117	0.89[AMR][1000 genomes]
rs393737	0.89[AMR][1000 genomes]
rs435590	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs442934	0.89[AMR][1000 genomes]
rs447175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs453640	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs461374	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs465860	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8101844	0.90[AFR][1000 genomes];0.87[AMR][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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
3	chr19:44462000-44485200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:44463000-44478800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:44466400-44480000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:44474800-44487600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:44475000-44477600	Strong transcription	H9 Derived Neuron 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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