Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2146592	0.91[ASN][1000 genomes]
rs2146593	0.91[ASN][1000 genomes]
rs2876741	0.92[ASN][1000 genomes]
rs4884135	0.98[ASN][1000 genomes]
rs4885651	1.00[ASN][1000 genomes]
rs7329551	1.00[ASN][1000 genomes]
rs7336082	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989227	1.00[ASN][1000 genomes]
rs7990151	0.89[ASN][1000 genomes]
rs7990179	1.00[ASN][1000 genomes]
rs7997134	0.99[ASN][1000 genomes]
rs928640	0.91[ASN][1000 genomes]
rs9545149	0.87[ASN][1000 genomes]
rs9545151	0.91[ASN][1000 genomes]
rs9565513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565514	1.00[ASN][1000 genomes]
rs9565515	1.00[ASN][1000 genomes]
rs9574441	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9574445	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9574448	0.99[ASN][1000 genomes]
rs9593407	0.99[ASN][1000 genomes]
rs9601251	0.93[ASN][1000 genomes]
rs9601252	0.93[ASN][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	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
3	esv3352546	chr13:80200623-80201077	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9565512	IMP3	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80195600-80202200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80198600-80203800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:80198600-80205200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:80199400-80204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:80199600-80202200	Enhancers	HMEC	breast
6	chr13:80200400-80201600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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