Variant report

Variant	rs9873248
Chromosome Location	chr3:78873426-78873427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11127634	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12495127	0.81[AMR][1000 genomes]
rs13087237	0.81[AMR][1000 genomes]
rs1487139	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1623449	0.81[ASN][1000 genomes]
rs162870	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1840969	0.81[ASN][1000 genomes]
rs1843786	0.92[ASN][1000 genomes]
rs28629289	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333495	0.81[ASN][1000 genomes]
rs439325	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9309818	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9309819	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9631512	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9837982	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9861264	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9877603	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9881587	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[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	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv877019	chr3:78808850-78877217	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv432459	chr3:78819310-78874310	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78851400-78880400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:78867600-78875200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:78868000-78881600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:78871200-78873800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:78871200-78873800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:78871600-78875000	Enhancers	HepG2	liver
7	chr3:78872600-78873800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:78872600-78873800	Enhancers	NHEK	skin
9	chr3:78872600-78874200	Enhancers	Hela-S3	cervix
10	chr3:78872600-78874600	Enhancers	A549	lung
11	chr3:78872800-78873800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:78872800-78874800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:78873000-78873600	Enhancers	Osteobl	bone
14	chr3:78873000-78874200	Weak transcription	Brain Anterior Caudate	brain
15	chr3:78873000-78875400	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:78873200-78874400	Weak transcription	Fetal Lung	lung
17	chr3:78873200-78874400	Weak transcription	NHLF	lung
18	chr3:78873200-78875200	Weak transcription	NHDF-Ad	bronchial
19	chr3:78873200-78879600	Weak transcription	Brain Substantia Nigra	brain
20	chr3:78873200-78888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:78873400-78874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:78873400-78874600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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