Variant report

Variant	rs1080093
Chromosome Location	chr18:29173680-29173681
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1080094	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11662311	0.82[EUR][1000 genomes]
rs1375446	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1611949	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1616887	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1667237	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1667244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667255	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1667258	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1791197	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1791198	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1791199	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1791201	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1791228	0.95[ASN][1000 genomes]
rs1791229	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2420813	0.82[EUR][1000 genomes]
rs2704058	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3764476	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs3764479	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs3794884	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs4799581	0.98[EUR][1000 genomes]
rs4799583	0.95[EUR][1000 genomes]
rs6506932	0.97[EUR][1000 genomes]
rs7235277	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs723744	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs7243588	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv576636	chr18:29146822-29190174	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1066881	chr18:29149752-29180840	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29167200-29175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:29171800-29178400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:29172000-29176200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:29172000-29176200	Weak transcription	Pancreas	Pancrea
5	chr18:29172400-29174200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr18:29173000-29174400	Active TSS	Fetal Intestine Small	intestine
7	chr18:29173200-29174400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:29173200-29175000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:29173400-29175000	Active TSS	Fetal Intestine Large	intestine
10	chr18:29173400-29175200	Transcr. at gene 5' and 3'	Liver	Liver
11	chr18:29173400-29176800	Genic enhancers	HepG2	liver

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