Variant report

Variant	rs1393775
Chromosome Location	chr6:54851958-54851959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10948879	0.86[ASN][1000 genomes]
rs1108887	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108888	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354288	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393776	0.88[ASN][1000 genomes]
rs1503134	0.98[ASN][1000 genomes]
rs1503136	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503140	0.95[ASN][1000 genomes]
rs1580891	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580892	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171224	0.84[ASN][1000 genomes]
rs1910350	1.00[ASN][1000 genomes]
rs2134537	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134538	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2174115	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207025	0.84[ASN][1000 genomes]
rs239790	0.84[ASN][1000 genomes]
rs239792	0.84[ASN][1000 genomes]
rs239796	0.84[ASN][1000 genomes]
rs239801	0.84[ASN][1000 genomes]
rs239813	0.84[ASN][1000 genomes]
rs3125260	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3125261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3125263	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3125267	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3125269	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715492	0.98[ASN][1000 genomes]
rs6902245	0.95[ASN][1000 genomes]
rs6902422	0.95[ASN][1000 genomes]
rs6922186	0.95[ASN][1000 genomes]
rs6926997	0.95[ASN][1000 genomes]
rs6929930	0.95[ASN][1000 genomes]
rs7744592	0.83[ASN][1000 genomes]
rs7764641	0.98[ASN][1000 genomes]
rs7765236	0.98[ASN][1000 genomes]
rs7766546	0.83[EUR][1000 genomes]
rs9349740	0.95[ASN][1000 genomes]
rs9370344	0.89[ASN][1000 genomes]
rs9370345	0.97[ASN][1000 genomes]
rs9370351	0.81[AFR][1000 genomes]
rs9382402	0.92[ASN][1000 genomes]
rs9382403	0.95[ASN][1000 genomes]
rs9382404	0.98[ASN][1000 genomes]
rs9382407	0.98[ASN][1000 genomes]
rs9382408	0.94[ASN][1000 genomes]
rs9396011	0.98[ASN][1000 genomes]
rs9475078	0.95[ASN][1000 genomes]
rs960834	0.93[ASN][1000 genomes]
rs980821	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980822	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988913	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv5309	chr6:54834971-54855729	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
3	nsv603141	chr6:54848142-54852462	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
4	nsv603147	chr6:54848265-54852462	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54847000-54854800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:54847000-54856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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