Variant report

Variant	rs4506212
Chromosome Location	chr8:10155784-10155785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10148268..10150713-chr8:10155428..10157105,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10089244	0.89[AMR][1000 genomes]
rs10105815	0.91[ASN][1000 genomes]
rs11249981	0.86[ASN][1000 genomes]
rs11249982	0.93[ASN][1000 genomes]
rs11249983	0.95[ASN][1000 genomes]
rs11775021	0.85[AMR][1000 genomes]
rs11778739	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782868	0.84[ASN][1000 genomes]
rs11990063	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11994805	0.88[AMR][1000 genomes]
rs13250850	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13276526	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13278498	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17151588	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151700	0.82[ASN][1000 genomes]
rs28590421	0.88[AMR][1000 genomes]
rs34113732	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34328494	0.87[EUR][1000 genomes]
rs36089236	0.91[ASN][1000 genomes]
rs4240641	0.86[ASN][1000 genomes]
rs4240642	0.83[ASN][1000 genomes]
rs4307347	0.82[ASN][1000 genomes]
rs4403412	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4546664	0.81[ASN][1000 genomes]
rs4577961	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4840474	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4841311	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56654851	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6601428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601430	0.83[ASN][1000 genomes]
rs6601431	0.82[ASN][1000 genomes]
rs7003360	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7004254	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71509165	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs723610	0.94[ASN][1000 genomes]
rs764738	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7821327	0.89[ASN][1000 genomes]
rs7842154	0.89[AMR][1000 genomes]
rs9644722	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4506212	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10144400-10167000	Weak transcription	Right Ventricle	heart
2	chr8:10148200-10159800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:10149400-10163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:10151000-10160000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:10151400-10177000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:10151400-10178800	Weak transcription	Spleen	Spleen
7	chr8:10152400-10158200	Weak transcription	Fetal Brain Female	brain
8	chr8:10152800-10157400	Weak transcription	Fetal Brain Male	brain
9	chr8:10153400-10167000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10154400-10158200	Weak transcription	Brain Germinal Matrix	brain
11	chr8:10154400-10163200	Weak transcription	Esophagus	oesophagus
12	chr8:10155000-10159000	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:10155600-10156000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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