Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2146592	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146593	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876741	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4884135	0.89[ASN][1000 genomes]
rs4885651	0.91[ASN][1000 genomes]
rs7329551	0.91[ASN][1000 genomes]
rs7336082	0.91[ASN][1000 genomes]
rs7989227	0.91[ASN][1000 genomes]
rs7990151	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7990179	0.91[ASN][1000 genomes]
rs7997134	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9530937	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9545149	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9545151	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565512	0.91[ASN][1000 genomes]
rs9565513	0.91[ASN][1000 genomes]
rs9565514	0.91[ASN][1000 genomes]
rs9565515	0.91[ASN][1000 genomes]
rs9574441	0.91[ASN][1000 genomes]
rs9574445	0.91[ASN][1000 genomes]
rs9574448	0.90[ASN][1000 genomes]
rs9593407	0.90[ASN][1000 genomes]
rs9601251	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9601252	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs928640	BTF3L1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80168600-80177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80168600-80177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:80170200-80178800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:80172000-80178800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:80176800-80177600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:80177400-80177800	Enhancers	Adipose Nuclei	Adipose

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