Variant report

Variant	rs1380181
Chromosome Location	chr17:15193056-15193057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1079974	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1079975	0.84[EUR][1000 genomes]
rs1121593	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12449862	0.91[CEU][hapmap]
rs1380179	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs179521	0.96[CEU][hapmap]
rs1870428	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1870430	0.91[CEU][hapmap]
rs231011	1.00[YRI][hapmap]
rs2323652	0.82[EUR][1000 genomes]
rs2323653	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4791619	0.81[CEU][hapmap]
rs4791620	0.84[EUR][1000 genomes]
rs6502441	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7217780	0.91[EUR][1000 genomes]
rs7502492	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8073642	0.85[EUR][1000 genomes]
rs981250	0.97[EUR][1000 genomes]
rs9944503	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
QT interval	23166209	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1380181	RHOBTB3	trans	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15189600-15195000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:15190800-15193200	Enhancers	NHDF-Ad	bronchial
3	chr17:15191200-15195200	Weak transcription	Right Atrium	heart
4	chr17:15191400-15195000	Weak transcription	Right Ventricle	heart
5	chr17:15191400-15195400	Weak transcription	Lung	lung
6	chr17:15191600-15205200	Weak transcription	Fetal Lung	lung
7	chr17:15192400-15193200	Enhancers	K562	blood
8	chr17:15192400-15193600	Weak transcription	Fetal Heart	heart
9	chr17:15192600-15193200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:15192600-15193200	Flanking Active TSS	Hela-S3	cervix
11	chr17:15192600-15193200	Flanking Active TSS	Osteobl	bone
12	chr17:15192600-15193400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:15192600-15193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:15192600-15193400	Enhancers	HUVEC	blood vessel
15	chr17:15192600-15193600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:15192600-15193600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:15192800-15195800	Enhancers	NH-A	brain
18	chr17:15193000-15193600	Active TSS	A549	lung
19	chr17:15193000-15194000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:15193000-15195000	Weak transcription	Left Ventricle	heart
21	chr17:15193000-15195200	Weak transcription	Gastric	stomach

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