Variant report

Variant	rs13259086
Chromosome Location	chr8:10490218-10490219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10483888..10486004-chr8:10489138..10491581,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11778453	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11787278	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4841401	0.91[EUR][1000 genomes]
rs7386213	0.89[EUR][1000 genomes]
rs7821092	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1031279	chr8:10448142-10501380	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1022682	chr8:10453091-10501380	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
10	nsv539467	chr8:10455842-10495689	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13259086	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10486000-10492000	Enhancers	Fetal Muscle Leg	muscle
2	chr8:10487400-10490800	Enhancers	Lung	lung
3	chr8:10487400-10491000	Enhancers	Spleen	Spleen
4	chr8:10487600-10490800	Enhancers	Right Ventricle	heart
5	chr8:10488000-10490600	Enhancers	Esophagus	oesophagus
6	chr8:10488600-10490600	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:10489000-10493600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:10489000-10494200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:10489400-10490400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:10489400-10490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:10489400-10490400	Weak transcription	Left Ventricle	heart
12	chr8:10489400-10490600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:10489400-10490600	Enhancers	HUVEC	blood vessel
14	chr8:10489400-10493400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:10489600-10490600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr8:10489600-10490800	Enhancers	Adipose Nuclei	Adipose
17	chr8:10489600-10493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:10489800-10493000	Weak transcription	Fetal Thymus	thymus
19	chr8:10490000-10490600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr8:10490000-10493200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:10490200-10490400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:10490200-10490400	Enhancers	Placenta	Placenta
23	chr8:10490200-10490400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:10490200-10490400	Bivalent Enhancer	NHEK	skin
25	chr8:10490200-10490600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:10490200-10490600	Weak transcription	Right Atrium	heart
27	chr8:10490200-10493600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:10490200-10493800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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