Variant report

Variant	rs9955279
Chromosome Location	chr18:7974486-7974487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10048238	1.00[JPT][hapmap]
rs10163540	1.00[JPT][hapmap]
rs12961323	1.00[JPT][hapmap]
rs12963759	1.00[JPT][hapmap]
rs2289685	0.91[ASN][1000 genomes]
rs25417	1.00[JPT][hapmap]
rs57007178	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58209325	1.00[ASN][1000 genomes]
rs59782869	1.00[ASN][1000 genomes]
rs6506551	1.00[JPT][hapmap]
rs73383811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383816	1.00[ASN][1000 genomes]
rs73383819	1.00[ASN][1000 genomes]
rs73383830	1.00[ASN][1000 genomes]
rs73383831	1.00[ASN][1000 genomes]
rs73383833	1.00[ASN][1000 genomes]
rs73383834	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9956344	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9956981	1.00[JPT][hapmap]
rs9962439	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9966320	0.81[AFR][1000 genomes];1.00[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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv521059	chr18:7962217-7981018	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
2	chr18:7948000-7975000	Weak transcription	Pancreas	Pancrea
3	chr18:7956000-7980800	Weak transcription	Fetal Thymus	thymus
4	chr18:7956000-7982400	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:7957600-7980600	Weak transcription	Right Ventricle	heart
6	chr18:7959000-7987400	Weak transcription	Ovary	ovary
7	chr18:7959200-7982400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:7963800-7977400	Weak transcription	Aorta	Aorta
9	chr18:7964800-7977200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:7964800-7984200	Weak transcription	Adipose Nuclei	Adipose
11	chr18:7966000-7979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:7966000-7980800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:7966000-7981600	Weak transcription	Thymus	Thymus
14	chr18:7966000-7982800	Weak transcription	A549	lung
15	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:7966000-7989600	Weak transcription	Lung	lung
17	chr18:7966600-7977400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:7966600-7979600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:7974000-7975200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr18:7974200-7975000	Weak transcription	Psoas Muscle	Psoas
21	chr18:7974200-7975200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr18:7974200-7977200	Weak transcription	Left Ventricle	heart
23	chr18:7974200-7977400	Weak transcription	Right Atrium	heart
24	chr18:7974400-7975200	Enhancers	Fetal Heart	heart

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