Variant report

Variant	rs17800232
Chromosome Location	chr20:11313166-11313167
allele	A/C
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	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13038948	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13039061	0.98[ASN][1000 genomes]
rs13043539	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1535071	0.92[ASN][1000 genomes]
rs1535072	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1997876	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1997877	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2327399	0.84[EUR][1000 genomes]
rs2327402	0.92[ASN][1000 genomes]
rs28479511	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6033092	0.85[EUR][1000 genomes]
rs6033095	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6040515	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6074279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6074281	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6074283	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6074287	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6074294	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6078118	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6078132	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6078136	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6078138	0.95[EUR][1000 genomes]
rs6078140	0.96[ASN][1000 genomes]
rs6078141	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6078143	0.88[EUR][1000 genomes]
rs6078144	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6078147	0.93[ASN][1000 genomes]
rs6104738	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6104739	0.94[EUR][1000 genomes]
rs6104745	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6108906	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6108909	0.97[EUR][1000 genomes]
rs722568	0.82[ASN][1000 genomes]
rs988788	0.85[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11309800-11314000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11310200-11314600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr20:11310200-11315200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr20:11310200-11315200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:11310200-11315400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:11310600-11314600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:11311600-11313400	Enhancers	NHEK	skin
8	chr20:11311600-11313600	Enhancers	HMEC	breast
9	chr20:11311800-11313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:11312000-11323200	Weak transcription	Psoas Muscle	Psoas
11	chr20:11312800-11313400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:11313000-11317200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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