Variant report

Variant	rs13038948
Chromosome Location	chr20:11323583-11323584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11698064	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13039061	0.99[ASN][1000 genomes]
rs13043539	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1535071	0.93[ASN][1000 genomes]
rs1535072	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17800232	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1997876	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1997877	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2327399	0.87[EUR][1000 genomes]
rs2327402	0.93[ASN][1000 genomes]
rs28479511	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6033092	0.82[EUR][1000 genomes]
rs6033095	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6040515	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6074279	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6074281	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6074283	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6074287	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6074294	0.88[ASN][1000 genomes]
rs6078118	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6078132	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6078136	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6078138	0.92[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.98[EUR][1000 genomes]
rs6078140	0.98[ASN][1000 genomes]
rs6078141	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6078143	0.91[EUR][1000 genomes]
rs6078144	0.92[ASN][1000 genomes]
rs6078147	0.94[ASN][1000 genomes]
rs6104738	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6104739	0.97[EUR][1000 genomes]
rs6104745	0.91[ASN][1000 genomes]
rs6108906	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6108909	1.00[CEU][hapmap];0.82[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs722568	0.82[CEU][hapmap];0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs988788	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11323000-11323600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11323200-11323600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:11323200-11323600	Enhancers	Psoas Muscle	Psoas
4	chr20:11323400-11323800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:11323400-11323800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:11323400-11323800	Enhancers	Skeletal Muscle Female	skeletal muscle

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