Variant report

No.	Distal block	Cell Line	Cell type
1	chr15:34501646..34504292-chr15:34510886..34512885,2	K562	blood:
2	chr15:34510862..34512619-chr15:34536843..34538458,2	K562	blood:
3	chr15:34509090..34511526-chr15:34517586..34519946,2	MCF-7	breast:
4	chr15:34499403..34506943-chr15:34508287..34513350,9	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10851952	0.80[ASN][1000 genomes]
rs10851955	0.84[ASN][1000 genomes]
rs11073010	0.80[ASN][1000 genomes]
rs11073014	0.80[ASN][1000 genomes]
rs11073019	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11631981	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11858408	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12437551	0.81[ASN][1000 genomes]
rs12441003	0.81[ASN][1000 genomes]
rs12442758	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12591315	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4381574	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4780227	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4780229	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4780231	0.81[AMR][1000 genomes]
rs4780232	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57502425	0.93[ASN][1000 genomes]
rs7180200	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8027499	0.81[ASN][1000 genomes]
rs8036468	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[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	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7164448	NOP10	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34507200-34516200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:34510200-34511600	Weak transcription	HUVEC	blood vessel
3	chr15:34510200-34515600	Weak transcription	K562	blood
4	chr15:34510200-34516200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:34510400-34516000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:34510400-34516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:34510400-34516000	Weak transcription	NHEK	skin
8	chr15:34510400-34516200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:34510400-34516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:34510400-34516200	Weak transcription	NHDF-Ad	bronchial
11	chr15:34510600-34516000	Weak transcription	Hela-S3	cervix
12	chr15:34510800-34511200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search: