Variant report

Variant	rs58408676
Chromosome Location	chr19:57021695-57021696
allele	G/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:10)

rs_ID	r²[population]
rs11667860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609033	0.95[ASN][1000 genomes]
rs12611241	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16987296	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987299	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55990637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57000964	1.00[ASN][1000 genomes]
rs59365357	0.96[ASN][1000 genomes]
rs60681598	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73629924	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS 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 miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv912518	chr19:56995737-57109821	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv912519	chr19:57020754-57065189	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57020200-57021800	Weak transcription	Aorta	Aorta
2	chr19:57020200-57024200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:57020200-57025400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:57020200-57025400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr19:57020200-57025600	Weak transcription	Left Ventricle	heart
6	chr19:57020200-57025800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:57020200-57027200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:57020200-57029800	Weak transcription	Gastric	stomach
9	chr19:57020400-57021800	Weak transcription	Adipose Nuclei	Adipose
10	chr19:57020400-57021800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:57020400-57022200	Weak transcription	Psoas Muscle	Psoas
12	chr19:57020400-57022800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:57020400-57022800	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:57020400-57022800	Weak transcription	Brain Substantia Nigra	brain
15	chr19:57020400-57022800	Weak transcription	Ovary	ovary
16	chr19:57020400-57022800	Weak transcription	NHDF-Ad	bronchial
17	chr19:57020400-57023000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:57020400-57024400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:57020400-57024600	Weak transcription	Fetal Heart	heart
20	chr19:57020400-57024600	Weak transcription	HSMMtube	muscle
21	chr19:57020400-57025200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:57020400-57025400	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:57020400-57025600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:57020400-57027600	Weak transcription	Osteobl	bone
25	chr19:57020400-57030400	Weak transcription	Right Ventricle	heart
26	chr19:57020600-57021800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:57020600-57022800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:57020600-57023800	Weak transcription	Placenta	Placenta
29	chr19:57020600-57024200	Weak transcription	Brain Angular Gyrus	brain
30	chr19:57020600-57025600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:57020600-57025600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:57020600-57025600	Weak transcription	Brain Anterior Caudate	brain
33	chr19:57020600-57028800	Weak transcription	Fetal Stomach	stomach
34	chr19:57020800-57024400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr19:57021000-57022800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:57021000-57027400	Weak transcription	HSMM	muscle
37	chr19:57021200-57022400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr19:57021200-57026000	Weak transcription	Fetal Brain Female	brain
39	chr19:57021400-57022000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:57021400-57026000	Weak transcription	Fetal Brain Male	brain
41	chr19:57021400-57027400	Weak transcription	Brain Germinal Matrix	brain
42	chr19:57021600-57021800	ZNF genes & repeats	Fetal Kidney	kidney

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