Variant report

Variant	rs28680211
Chromosome Location	chr8:10519445-10519446
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10512107..10514009-chr8:10517440..10520321,2	MCF-7	breast:
2	chr8:10513777..10515857-chr8:10519187..10521962,2	K562	blood:

Variant related genes	Relation type
ENSG00000183638	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10096777	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11250056	0.88[EUR][1000 genomes]
rs11774552	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11781592	0.90[EUR][1000 genomes]
rs11784144	0.96[ASN][1000 genomes]
rs28459259	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28722737	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4395858	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4841407	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4841408	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4841409	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841410	0.93[ASN][1000 genomes]
rs4841411	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56057779	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58065122	0.85[ASN][1000 genomes]
rs60581277	0.89[ASN][1000 genomes]
rs7014633	0.96[ASN][1000 genomes]
rs7814795	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9969466	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9969657	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28680211	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10513000-10522800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:10513000-10524200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10516800-10521800	Enhancers	Adipose Nuclei	Adipose
4	chr8:10519000-10520400	Weak transcription	Right Atrium	heart
5	chr8:10519000-10520800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10519000-10521800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
7	chr8:10519200-10519600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:10519400-10519800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr8:10519400-10520400	Enhancers	Right Ventricle	heart
10	chr8:10519400-10521400	Enhancers	Left Ventricle	heart

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