Variant report

Variant	rs4791619
Chromosome Location	chr17:15179899-15179900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15166393..15169688-chr17:15179101..15182406,4	MCF-7	breast:
2	chr17:15177773..15180242-chr17:15236243..15238817,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMP22-2	chr17:15179879-15179976	XLOC_012397
2	lnc-PMP22-2	chr17:15179194-15181028	XLOC_012397

Variant related genes	Relation type
ENSG00000109099	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1079974	0.87[CEU][hapmap]
rs10852830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1121593	0.87[CEU][hapmap]
rs11655300	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11656487	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12449862	0.88[CEU][hapmap]
rs16951285	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs179521	0.84[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1812857	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1870429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870430	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2006787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2323653	0.86[CEU][hapmap]
rs8081499	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9906323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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
rs4791619	RHOBTB3	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15173200-15192600	Weak transcription	Left Ventricle	heart
2	chr17:15174800-15181600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:15177200-15180800	Weak transcription	Hela-S3	cervix
4	chr17:15177200-15181400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:15177200-15181600	Weak transcription	Adipose Nuclei	Adipose
6	chr17:15177200-15181600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:15177200-15181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:15177400-15181600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:15177400-15181600	Weak transcription	NH-A	brain
10	chr17:15178000-15181800	Weak transcription	HSMMtube	muscle
11	chr17:15179200-15180200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:15179200-15181600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:15179400-15180000	Weak transcription	Right Ventricle	heart
14	chr17:15179400-15180200	Enhancers	Osteobl	bone
15	chr17:15179600-15180000	Enhancers	NHLF	lung
16	chr17:15179600-15180200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:15179600-15180200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr17:15179600-15181200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:15179600-15181600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:15179600-15181600	Enhancers	A549	lung
21	chr17:15179600-15181600	Enhancers	NHDF-Ad	bronchial
22	chr17:15179800-15180200	Enhancers	Fetal Heart	heart

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