Variant report

Variant	rs73583034
Chromosome Location	chr19:53002352-53002353
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10410409	1.00[AFR][1000 genomes]
rs10414863	1.00[AFR][1000 genomes]
rs10420991	1.00[AMR][1000 genomes]
rs10425471	1.00[AMR][1000 genomes]
rs10425890	1.00[AFR][1000 genomes]
rs10426876	1.00[AFR][1000 genomes]
rs13346151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13346509	1.00[AMR][1000 genomes]
rs28413527	1.00[AFR][1000 genomes]
rs7247461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249893	1.00[AMR][1000 genomes]
rs73584110	1.00[AMR][1000 genomes]
rs8101780	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3404701	chr19:52986895-53035152	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1058567	chr19:52992455-53021505	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3440535	chr19:52993529-53035203	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1066717	chr19:52993620-53041995	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1064342	chr19:52996710-53041119	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1055825	chr19:53001299-53037378	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1055859	chr19:53001299-53041119	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1060656	chr19:53001299-53041995	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52997000-53008200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:52997400-53002600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:52997600-53009800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:52997800-53005400	Weak transcription	Dnd41	blood
5	chr19:52999200-53002400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:52999400-53002600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:52999600-53005200	Weak transcription	Fetal Brain Female	brain
8	chr19:53000600-53006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:53000800-53005800	Weak transcription	Brain Anterior Caudate	brain
10	chr19:53001000-53006000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:53001400-53002800	Enhancers	Placenta	Placenta
12	chr19:53002000-53002600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:53002000-53002800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:53002000-53002800	ZNF genes & repeats	Left Ventricle	heart
15	chr19:53002000-53002800	ZNF genes & repeats	Pancreas	Pancrea
16	chr19:53002000-53003000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:53002000-53003000	Strong transcription	Brain Germinal Matrix	brain
18	chr19:53002000-53005400	Weak transcription	Fetal Muscle Leg	muscle
19	chr19:53002200-53002400	ZNF genes & repeats	Aorta	Aorta
20	chr19:53002200-53002600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:53002200-53002800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:53002200-53002800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
23	chr19:53002200-53003400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr19:53002200-53014200	ZNF genes & repeats	Ovary	ovary

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