Variant report

Variant	rs10460003
Chromosome Location	chr18:12747012-12747013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11874945	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12960892	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12966224	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12971226	0.88[ASN][1000 genomes]
rs16939788	0.95[ASN][1000 genomes]
rs34141130	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34465486	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57460226	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61277070	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71353224	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71353225	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7226608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7229751	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7231683	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7235964	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7243762	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs755390	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9948472	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs9960807	0.81[CHB][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv909405	chr18:12727224-12750499	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv909406	chr18:12727224-12761498	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1062149	chr18:12728115-12783898	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10460003	MC5R	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12723000-12748400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:12741200-12749000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:12741400-12748000	Weak transcription	HSMM	muscle
4	chr18:12742600-12748000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:12743000-12748200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:12743200-12748000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:12743200-12748000	Weak transcription	Osteobl	bone
8	chr18:12743200-12750200	Weak transcription	A549	lung
9	chr18:12743800-12750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:12744000-12749000	Weak transcription	Hela-S3	cervix
11	chr18:12744600-12748000	Weak transcription	NHLF	lung
12	chr18:12744600-12748200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:12745200-12749400	Genic enhancers	Fetal Thymus	thymus
14	chr18:12745800-12749000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:12746000-12748000	Weak transcription	NHEK	skin
16	chr18:12746000-12748200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:12746200-12748200	Weak transcription	NHDF-Ad	bronchial
18	chr18:12746400-12750000	Weak transcription	HepG2	liver
19	chr18:12746600-12747600	Weak transcription	Thymus	Thymus
20	chr18:12746800-12747600	Strong transcription	Dnd41	blood

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