Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1972192	0.87[ASN][1000 genomes]
rs2024689	0.87[ASN][1000 genomes]
rs2064525	0.81[ASN][1000 genomes]
rs2327342	0.87[ASN][1000 genomes]
rs2876217	0.98[ASN][1000 genomes]
rs4270418	0.98[ASN][1000 genomes]
rs6033042	0.81[ASN][1000 genomes]
rs6033045	0.81[ASN][1000 genomes]
rs6033050	0.97[ASN][1000 genomes]
rs6033053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040398	0.81[ASN][1000 genomes]
rs6040399	0.81[ASN][1000 genomes]
rs6040400	0.80[ASN][1000 genomes]
rs6040404	0.86[ASN][1000 genomes]
rs6040418	0.98[ASN][1000 genomes]
rs6040420	0.98[ASN][1000 genomes]
rs6040421	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040422	0.98[ASN][1000 genomes]
rs6040423	0.98[ASN][1000 genomes]
rs6108856	0.86[ASN][1000 genomes]
rs6134147	0.81[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	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
4	nsv585416	chr20:11156775-11190087	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4813048	HAO1	cis	parietal	SCAN
rs4813048	BTBD3	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11167600-11176400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr20:11168000-11170200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr20:11168000-11176800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr20:11168400-11176200	Weak transcription	HMEC	breast
5	chr20:11168600-11173600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:11168600-11174800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:11169400-11170800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:11169600-11171000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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