Variant report

Variant	rs9951113
Chromosome Location	chr18:11927429-11927430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000267661	TF binding region
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12326768	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12955366	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12960421	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34372238	0.94[EUR][1000 genomes]
rs34374344	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56786794	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67749125	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71350473	0.85[EUR][1000 genomes]
rs71350476	0.94[EUR][1000 genomes]
rs8095587	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8098437	0.94[EUR][1000 genomes]
rs9949804	0.91[EUR][1000 genomes]
rs9962961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv962489	chr18:11920674-11929409	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11923200-11927600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr18:11925200-11927600	Enhancers	HepG2	liver
3	chr18:11925200-11927800	Enhancers	K562	blood
4	chr18:11926200-11928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:11926600-11927800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr18:11927200-11928000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:11927200-11928000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr18:11927200-11928000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:11927200-11928000	Enhancers	Hela-S3	cervix
10	chr18:11927200-11928600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:11927400-11927800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:11927400-11928000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:11927400-11928000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:11927400-11928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:11927400-11928000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:11927400-11928000	Enhancers	Fetal Lung	lung
17	chr18:11927400-11928200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:11927400-11928400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr18:11927400-11946000	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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