Variant report

Variant	rs56193920
Chromosome Location	chr8:19759225-19759226
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10100420	1.00[AMR][1000 genomes]
rs10109854	1.00[AMR][1000 genomes]
rs12015247	1.00[AMR][1000 genomes]
rs259	1.00[AMR][1000 genomes]
rs28529022	1.00[AMR][1000 genomes]
rs55830938	1.00[AMR][1000 genomes]
rs57345602	1.00[AMR][1000 genomes]
rs58065180	1.00[AMR][1000 genomes]
rs59184895	1.00[AMR][1000 genomes]
rs61171174	1.00[AMR][1000 genomes]
rs7005541	1.00[AMR][1000 genomes]
rs73667439	1.00[AMR][1000 genomes]
rs73667442	1.00[AMR][1000 genomes]
rs73667448	1.00[AMR][1000 genomes]
rs73667450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73667452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73667453	0.91[AFR][1000 genomes]
rs73667456	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73667457	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73667458	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73667460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73667464	1.00[AMR][1000 genomes]
rs73667466	1.00[AMR][1000 genomes]
rs73667467	1.00[AMR][1000 genomes]
rs73667471	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19749400-19759800	Weak transcription	Fetal Lung	lung
2	chr8:19754800-19762600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:19756600-19760600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:19757200-19761800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:19757600-19761200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:19757600-19761800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:19758400-19759800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:19758400-19760200	Enhancers	Brain Substantia Nigra	brain
9	chr8:19758600-19759800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:19758800-19760000	Enhancers	Brain Angular Gyrus	brain
11	chr8:19758800-19760000	Enhancers	Brain Anterior Caudate	brain
12	chr8:19758800-19760200	Enhancers	Brain Hippocampus Middle	brain
13	chr8:19758800-19760200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:19759000-19759400	Enhancers	Brain Cingulate Gyrus	brain
15	chr8:19759000-19759800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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