Variant report

Variant	rs8073642
Chromosome Location	chr17:15194475-15194476
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1079974	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs1079975	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10852830	0.87[CEU][hapmap]
rs1121593	0.95[CEU][hapmap];0.83[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11655300	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12449862	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12948181	0.89[EUR][1000 genomes]
rs1380179	0.87[ASN][1000 genomes]
rs1380181	0.85[EUR][1000 genomes]
rs16951285	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs179521	1.00[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1870428	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs1870429	0.87[CEU][hapmap]
rs1870430	0.95[CEU][hapmap]
rs2006787	0.87[CEU][hapmap]
rs2024157	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2323652	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2323653	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs4791619	0.87[CEU][hapmap]
rs4791620	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4792586	0.86[ASN][1000 genomes]
rs6502441	0.82[EUR][1000 genomes]
rs7217780	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7502492	0.81[CEU][hapmap]
rs8070951	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8073989	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981250	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8073642	RHOBTB3	trans	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 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	chr17:15191200-15195200	Weak transcription	Right Atrium	heart
3	chr17:15191400-15195000	Weak transcription	Right Ventricle	heart
4	chr17:15191400-15195400	Weak transcription	Lung	lung
5	chr17:15191600-15205200	Weak transcription	Fetal Lung	lung
6	chr17:15192800-15195800	Enhancers	NH-A	brain
7	chr17:15193000-15195000	Weak transcription	Left Ventricle	heart
8	chr17:15193000-15195200	Weak transcription	Gastric	stomach
9	chr17:15193200-15194600	Enhancers	Hela-S3	cervix
10	chr17:15193200-15195000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:15193200-15195000	Weak transcription	K562	blood
12	chr17:15193400-15195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:15193400-15201400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:15193600-15195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:15193600-15195200	Enhancers	Fetal Heart	heart
16	chr17:15193800-15195600	Enhancers	HSMMtube	muscle
17	chr17:15193800-15196000	Enhancers	Osteobl	bone
18	chr17:15194000-15195200	Enhancers	A549	lung

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