Variant report

Variant	rs443389
Chromosome Location	chr19:44397420-44397421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12459186	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs189445	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2195980	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs239947	0.82[AMR][1000 genomes]
rs349027	0.81[AMR][1000 genomes]
rs349035	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs349036	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs349037	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs450880	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7251009	0.81[EUR][1000 genomes]
rs7258953	0.82[AMR][1000 genomes];0.85[EUR][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	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44383000-44405200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:44396400-44397600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44396600-44397600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:44396600-44397600	ZNF genes & repeats	Liver	Liver
5	chr19:44397200-44397600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:44397200-44397600	ZNF genes & repeats	Aorta	Aorta
7	chr19:44397200-44397600	ZNF genes & repeats	Brain Angular Gyrus	brain
8	chr19:44397200-44397600	ZNF genes & repeats	Pancreas	Pancrea
9	chr19:44397200-44397600	ZNF genes & repeats	Psoas Muscle	Psoas
10	chr19:44397200-44400200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	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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