Variant report

Variant	rs239947
Chromosome Location	chr19:44357496-44357497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10407794	0.81[AMR][1000 genomes]
rs12459186	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs189445	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2033492	0.81[AMR][1000 genomes]
rs2195980	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs349026	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs349027	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs349035	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs349036	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs349037	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs443389	0.82[AMR][1000 genomes]
rs7251009	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7258953	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][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	nsv524460	chr19:44352688-44372015	Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:44353800-44357600	ZNF genes & repeats	Left Ventricle	heart
5	chr19:44354200-44358200	ZNF genes & repeats	Psoas Muscle	Psoas
6	chr19:44355600-44359200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:44356200-44359000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:44356800-44358800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:44356800-44359200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:44357000-44359600	Weak transcription	Brain Angular Gyrus	brain
11	chr19:44357000-44360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:44357200-44358000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:44357200-44358000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:44357200-44358000	Weak transcription	Liver	Liver
15	chr19:44357200-44359000	Weak transcription	Fetal Lung	lung
16	chr19:44357200-44359000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:44357200-44359200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:44357400-44357600	Weak transcription	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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