Variant report

Variant	rs73540428
Chromosome Location	chr19:21182320-21182321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10406359	1.00[AMR][1000 genomes]
rs10418266	1.00[AMR][1000 genomes]
rs17447963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2098682	1.00[AMR][1000 genomes]
rs57505697	1.00[AMR][1000 genomes]
rs57601660	1.00[AMR][1000 genomes]
rs57981503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58002329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59609198	1.00[AMR][1000 genomes]
rs60170851	1.00[AMR][1000 genomes]
rs60293432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61179921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7246695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247670	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248199	1.00[AMR][1000 genomes]
rs7259985	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531882	1.00[AMR][1000 genomes]
rs73531886	1.00[AMR][1000 genomes]
rs73531897	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531902	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533603	1.00[AMR][1000 genomes]
rs73533607	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533690	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542615	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542629	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542640	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544576	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546304	1.00[AMR][1000 genomes]
rs73546306	1.00[AMR][1000 genomes]
rs8104371	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108394	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong 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	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr19:21177400-21182600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:21180600-21182400	Enhancers	Dnd41	blood
3	chr19:21181400-21182800	Weak transcription	Spleen	Spleen
4	chr19:21182200-21182400	Enhancers	Primary B cells from cord blood	blood
5	chr19:21182200-21182400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr19:21182200-21182400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:21182200-21182400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr19:21182200-21182400	Enhancers	Adipose Nuclei	Adipose
9	chr19:21182200-21182400	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:21182200-21182400	Enhancers	NH-A	brain
11	chr19:21182200-21182600	Enhancers	Primary B cells from peripheral blood	blood
12	chr19:21182200-21182800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:21182200-21182800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:21182200-21183000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:21182200-21183000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr19:21182200-21183000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:21182200-21183000	Active TSS	Fetal Brain Female	brain
18	chr19:21182200-21183000	Active TSS	Fetal Stomach	stomach
19	chr19:21182200-21183000	Active TSS	Stomach Smooth Muscle	stomach
20	chr19:21182200-21183200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr19:21182200-21183400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:21182200-21183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:21182200-21183600	Active TSS	Brain Germinal Matrix	brain
24	chr19:21182200-21183800	Active TSS	HUES64 Cell Line	embryonic stem cell

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