Variant report

Variant	rs28722737
Chromosome Location	chr8:10511419-10511420
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	chr8:10510048..10512497-chr8:10513684..10515900,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10096777	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11250056	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11774552	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11781592	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28459259	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680211	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4395858	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4841407	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4841408	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841409	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4841411	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56057779	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7814795	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9969466	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969657	0.88[AMR][1000 genomes];0.96[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
rs28722737	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10495400-10512000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:10502200-10512000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:10503800-10512200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10504000-10513400	Weak transcription	Right Atrium	heart
5	chr8:10508600-10512400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:10509200-10513000	Enhancers	HMEC	breast
7	chr8:10509400-10513000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:10509400-10513000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:10509600-10511600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:10509600-10511600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:10509600-10511800	Enhancers	Osteobl	bone
12	chr8:10509600-10512800	Flanking Active TSS	Hela-S3	cervix
13	chr8:10509600-10512800	Enhancers	HUVEC	blood vessel
14	chr8:10509600-10512800	Enhancers	NH-A	brain
15	chr8:10510200-10512200	Flanking Active TSS	NHEK	skin
16	chr8:10510200-10512600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:10510200-10512600	Enhancers	NHLF	lung
18	chr8:10510200-10512800	Enhancers	Esophagus	oesophagus
19	chr8:10510200-10513600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:10510800-10511800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:10511000-10511800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:10511000-10513000	Enhancers	Fetal Thymus	thymus
23	chr8:10511200-10512000	Weak transcription	NHDF-Ad	bronchial
24	chr8:10511200-10513600	Weak transcription	K562	blood
25	chr8:10511400-10511600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:10511400-10511600	Enhancers	Fetal Brain Female	brain
27	chr8:10511400-10512000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:10511400-10512000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:10511400-10512600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:10511400-10513400	Enhancers	A549	lung
31	chr8:10511400-10515000	Enhancers	Brain Germinal Matrix	brain

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