Variant report

Variant	rs60755043
Chromosome Location	chr19:57030280-57030281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs57355484	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58021248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58464193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59624311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59653857	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60067324	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60601332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60745037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61159046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73616007	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73616009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73616014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73616015	1.00[AMR][1000 genomes]
rs73628501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	nsv580387	chr19:57026396-57040070	Strong transcription ZNF genes & repeats Weak transcription	lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57020400-57030400	Weak transcription	Right Ventricle	heart
2	chr19:57022600-57042800	ZNF genes & repeats	Liver	Liver
3	chr19:57022800-57031200	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr19:57022800-57049200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:57023000-57037400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:57024200-57030400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:57024400-57038800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:57025600-57038200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:57025600-57049200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:57025800-57030600	Weak transcription	Pancreas	Pancrea
11	chr19:57025800-57031200	Weak transcription	Esophagus	oesophagus
12	chr19:57026000-57040200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
13	chr19:57026200-57031400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:57027200-57035800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr19:57027200-57038600	ZNF genes & repeats	Ovary	ovary
16	chr19:57027400-57034400	ZNF genes & repeats	Fetal Lung	lung
17	chr19:57027400-57040800	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr19:57028000-57030400	Weak transcription	Dnd41	blood
19	chr19:57028200-57030800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:57028400-57030400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:57029000-57035400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:57029000-57036800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:57029000-57037400	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr19:57029000-57039200	ZNF genes & repeats	Left Ventricle	heart
25	chr19:57029000-57041600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:57029200-57041000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
27	chr19:57029200-57042600	ZNF genes & repeats	Brain Substantia Nigra	brain
28	chr19:57029400-57031800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr19:57029400-57032000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr19:57029400-57037800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr19:57029600-57030400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
32	chr19:57029600-57031000	ZNF genes & repeats	Osteobl	bone
33	chr19:57029600-57031600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:57029600-57031600	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr19:57029600-57031600	ZNF genes & repeats	HSMM	muscle
36	chr19:57029600-57031800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr19:57029600-57032200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:57029600-57032200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr19:57029600-57032200	ZNF genes & repeats	Fetal Kidney	kidney
40	chr19:57029600-57032400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:57029600-57032600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr19:57029600-57033200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:57029600-57033800	ZNF genes & repeats	Brain Angular Gyrus	brain
44	chr19:57029600-57038200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:57029600-57038200	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr19:57029600-57039400	ZNF genes & repeats	Fetal Brain Female	brain
47	chr19:57029600-57041800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr19:57029600-57046200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr19:57029800-57030600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:57029800-57030600	Strong transcription	Brain Germinal Matrix	brain

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