Variant report

Variant	rs397189
Chromosome Location	chr19:39561999-39562000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10407957	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10408661	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12151180	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2569365	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34738600	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs377373	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs380679	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs384605	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs385681	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs392005	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs392135	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs393559	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs395387	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs396616	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs400011	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs420682	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs426076	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs452666	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs453853	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4802015	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803196	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803197	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs482679	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs487456	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs578940	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597995	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs602744	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs609327	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs620642	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs621580	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs648192	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648635	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs665998	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs690812	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs691059	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs691114	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs691256	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs691266	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs691391	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs691890	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs692294	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs692343	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs692347	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs774727	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs774927	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs774928	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv522530	chr19:39552150-39573918	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39545200-39564400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:39557000-39564400	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:39560400-39562000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:39560400-39562400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:39561000-39562200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:39561200-39562000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:39561200-39562000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:39561200-39562000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:39561200-39562000	Enhancers	NHEK	skin
10	chr19:39561200-39562400	Enhancers	HMEC	breast
11	chr19:39561400-39562000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:39561400-39562000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:39561400-39562000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:39561400-39562000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:39561400-39562000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:39561400-39562000	Enhancers	Placenta	Placenta
17	chr19:39561400-39562000	Flanking Active TSS	A549	lung
18	chr19:39561800-39563800	Weak transcription	Osteobl	bone
19	chr19:39561800-39564000	Weak transcription	Muscle Satellite Cultured Cells	--

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