Variant report

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

rs_ID	r²[population]
rs2329127	0.83[AFR][1000 genomes]
rs2876745	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34629137	0.87[AFR][1000 genomes]
rs4335681	0.83[AFR][1000 genomes]
rs4885651	0.83[AFR][1000 genomes]
rs60407730	0.87[AFR][1000 genomes]
rs6563124	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6563128	0.84[AFR][1000 genomes]
rs7324718	0.90[AFR][1000 genomes]
rs7329551	0.82[AFR][1000 genomes]
rs7329850	0.90[AFR][1000 genomes]
rs7330910	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333099	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7333290	0.87[AFR][1000 genomes]
rs7335083	0.85[AFR][1000 genomes]
rs7985510	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7987038	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7989227	0.83[AFR][1000 genomes]
rs7990179	0.83[AFR][1000 genomes]
rs8001082	0.84[AFR][1000 genomes]
rs9318646	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1998452	RBM26-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs1998452	RBM26-AS1	cis	Thyroid	GTEx
rs1998452	RBM26-AS1	cis	Esophagus Muscularis	GTEx
rs1998452	MYCBP2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80203000-80211200	Weak transcription	Adipose Nuclei	Adipose
2	chr13:80205400-80221200	Weak transcription	HSMM	muscle
3	chr13:80205800-80210200	Weak transcription	Fetal Heart	heart
4	chr13:80205800-80215000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr13:80206200-80211000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:80206600-80211200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:80206600-80216800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:80206600-80220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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