Variant report

Variant	rs58399138
Chromosome Location	chr8:20095323-20095324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20085731..20091365-chr8:20092849..20097507,5	K562	blood:
2	chr8:20089437..20091365-chr8:20095283..20097507,2	K562	blood:

Variant related genes	Relation type
ENSG00000222267	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12545976	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73669751	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs952148	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3440486	chr8:20092872-20097870	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20083800-20095600	Weak transcription	Pancreas	Pancrea
2	chr8:20089800-20096400	Weak transcription	Right Atrium	heart
3	chr8:20090000-20103800	Weak transcription	HSMM	muscle
4	chr8:20090200-20102800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:20091200-20103800	Weak transcription	NHLF	lung
6	chr8:20092000-20097600	Enhancers	Fetal Brain Male	brain
7	chr8:20092600-20095800	Weak transcription	HSMMtube	muscle
8	chr8:20093800-20103000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:20093800-20103200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:20093800-20104200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:20094000-20109800	Weak transcription	Thymus	Thymus
12	chr8:20094200-20096000	Weak transcription	Left Ventricle	heart
13	chr8:20094200-20096200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:20094200-20096400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:20094200-20096400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:20094200-20096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:20094200-20096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:20094400-20095400	Weak transcription	Fetal Brain Female	brain
19	chr8:20094400-20096400	Weak transcription	Right Ventricle	heart
20	chr8:20094800-20096000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:20094800-20096000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:20094800-20111800	Weak transcription	Fetal Thymus	thymus
23	chr8:20095000-20095800	Flanking Active TSS	Fetal Heart	heart
24	chr8:20095000-20095800	ZNF genes & repeats	Fetal Kidney	kidney
25	chr8:20095200-20096200	Enhancers	Dnd41	blood
26	chr8:20095200-20097600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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