Variant report

Variant	rs56110557
Chromosome Location	chr5:124254061-124254062
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10038794	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10041713	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10041724	0.87[ASN][1000 genomes]
rs10051446	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10055828	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058365	0.93[ASN][1000 genomes]
rs10066786	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10070612	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10077638	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10078386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1026010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10463783	0.85[EUR][1000 genomes]
rs10478645	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10793807	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11241775	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11241776	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11241777	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11241779	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11743521	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11743554	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11951671	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11953197	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11958289	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12109265	0.82[ASN][1000 genomes]
rs12652556	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12652881	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12652885	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12653706	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654010	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654041	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654479	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654486	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654606	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12654613	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655869	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12655887	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12656060	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12656194	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12656225	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12657832	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12658154	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13359971	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1374130	0.80[ASN][1000 genomes]
rs17152193	0.82[ASN][1000 genomes]
rs28375332	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35862376	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36041674	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4240384	0.81[ASN][1000 genomes]
rs4311414	0.81[ASN][1000 genomes]
rs4331894	0.81[ASN][1000 genomes]
rs59020249	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62370848	0.87[ASN][1000 genomes]
rs6869863	0.89[ASN][1000 genomes]
rs6875187	0.81[ASN][1000 genomes]
rs6875370	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6875763	0.81[ASN][1000 genomes]
rs6876036	0.80[ASN][1000 genomes]
rs6895658	0.89[ASN][1000 genomes]
rs6895765	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6898265	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73782503	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7732618	0.81[ASN][1000 genomes]
rs9327340	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9968605	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124246000-124254200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:124249200-124254200	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:124249200-124254200	Weak transcription	Brain Substantia Nigra	brain
4	chr5:124249200-124254800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:124249400-124254200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:124249400-124263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:124251200-124259400	Enhancers	Dnd41	blood
8	chr5:124251800-124254200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:124253800-124254200	Weak transcription	Fetal Lung	lung
10	chr5:124254000-124254400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:124254000-124254800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:124254000-124257200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:124254000-124259800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:124254000-124260200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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