Variant report

Variant	rs4403412
Chromosome Location	chr8:10153281-10153282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10089244	0.86[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes]
rs10089263	0.85[JPT][hapmap]
rs10093246	0.84[JPT][hapmap]
rs10105815	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10903323	0.82[CHB][hapmap]
rs11249981	0.87[ASN][1000 genomes]
rs11249982	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11249983	0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs11249986	0.85[JPT][hapmap]
rs11775021	0.87[AMR][1000 genomes]
rs11778739	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782868	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs11990063	0.85[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11994805	0.86[CEU][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes]
rs12676847	0.80[JPT][hapmap]
rs13250850	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13276526	0.90[CEU][hapmap];0.80[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13278498	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17151588	0.87[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151700	0.90[JPT][hapmap]
rs17151731	0.84[JPT][hapmap]
rs2003226	0.80[JPT][hapmap]
rs28590421	0.90[AMR][1000 genomes]
rs34113732	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34328494	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36089236	0.91[ASN][1000 genomes]
rs4240641	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4307347	0.84[JPT][hapmap]
rs4329276	0.85[JPT][hapmap]
rs4503102	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs4506212	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4546664	0.85[JPT][hapmap]
rs4577961	0.95[CEU][hapmap];0.80[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4840474	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4840475	0.81[YRI][hapmap]
rs4841311	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56654851	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601430	0.85[JPT][hapmap]
rs6601431	0.84[JPT][hapmap]
rs7003360	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7004254	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71509165	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs723610	0.85[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs764738	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7821327	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7842154	0.82[CEU][hapmap];0.89[AMR][1000 genomes]
rs9644722	0.89[AMR][1000 genomes];0.84[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
rs4403412	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 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	chr8:10152400-10154200	Weak transcription	Psoas Muscle	Psoas
8	chr8:10152400-10154200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:10152400-10158200	Weak transcription	Fetal Brain Female	brain
10	chr8:10152800-10153400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:10152800-10154200	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:10152800-10157400	Weak transcription	Fetal Brain Male	brain
13	chr8:10153000-10153400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:10153200-10153400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:10153200-10153600	Weak transcription	Brain Germinal Matrix	brain
16	chr8:10153200-10153600	Enhancers	Fetal Muscle Trunk	muscle

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