Variant report

Variant	rs7217780
Chromosome Location	chr17:15191024-15191025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15181560..15183970-chr17:15189229..15191204,2	K562	blood:
2	chr17:15165826..15168738-chr17:15189800..15192284,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237377	Chromatin interaction
ENSG00000109099	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1079974	0.89[EUR][1000 genomes]
rs1079975	0.89[ASN][1000 genomes]
rs1121593	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11655300	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1380179	0.86[ASN][1000 genomes]
rs1380181	0.91[EUR][1000 genomes]
rs179521	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1870428	0.91[EUR][1000 genomes]
rs2006787	0.81[EUR][1000 genomes]
rs2024157	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2323652	0.89[ASN][1000 genomes]
rs2323653	0.90[EUR][1000 genomes]
rs4791620	0.89[ASN][1000 genomes]
rs4792586	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6502441	0.88[EUR][1000 genomes]
rs7502492	0.82[EUR][1000 genomes]
rs8073642	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8073989	0.98[ASN][1000 genomes]
rs981250	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9944503	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv574448	chr17:15183627-15191921	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv574459	chr17:15184244-15191921	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7217780	RHOBTB3	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15173200-15192600	Weak transcription	Left Ventricle	heart
2	chr17:15185400-15191200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:15186600-15192200	Weak transcription	A549	lung
4	chr17:15189600-15195000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:15190600-15191200	Enhancers	Right Atrium	heart
6	chr17:15190600-15191400	Enhancers	Fetal Stomach	stomach
7	chr17:15190600-15191400	Enhancers	Right Ventricle	heart
8	chr17:15190600-15191600	Enhancers	Adipose Nuclei	Adipose
9	chr17:15190600-15192400	Enhancers	Fetal Heart	heart
10	chr17:15190800-15191200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:15190800-15191600	Enhancers	Colon Smooth Muscle	Colon
12	chr17:15190800-15193200	Enhancers	NHDF-Ad	bronchial
13	chr17:15191000-15191200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr17:15191000-15191200	Enhancers	Osteobl	bone
15	chr17:15191000-15191400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:15191000-15191400	Flanking Active TSS	Fetal Lung	lung
17	chr17:15191000-15191400	Enhancers	Fetal Muscle Leg	muscle
18	chr17:15191000-15191400	Enhancers	Psoas Muscle	Psoas
19	chr17:15191000-15191400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr17:15191000-15191600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:15191000-15192000	Enhancers	Rectal Smooth Muscle	rectum

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