Variant report

Variant	rs9947177
Chromosome Location	chr18:12567616-12567617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12566764..12569435-chr18:12577328..12578962,2	K562	blood:
2	chr18:12566971..12569951-chr18:12635149..12637738,2	K562	blood:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs28411962	1.00[AMR][1000 genomes]
rs28504345	1.00[AMR][1000 genomes]
rs28533061	1.00[AMR][1000 genomes]
rs28557018	1.00[AMR][1000 genomes]
rs28599545	1.00[AMR][1000 genomes]
rs28603194	1.00[AMR][1000 genomes]
rs28608782	1.00[AMR][1000 genomes]
rs28734798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8097077	1.00[AMR][1000 genomes]
rs9945568	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9946958	1.00[AMR][1000 genomes]
rs9947285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9950017	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9950999	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953587	1.00[AMR][1000 genomes]
rs9954340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9957046	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9958917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9960580	1.00[AMR][1000 genomes]
rs9960826	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9961389	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9961477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9961556	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	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	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12553600-12574600	Weak transcription	Right Ventricle	heart
2	chr18:12553800-12569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:12557600-12580800	Weak transcription	Pancreas	Pancrea
4	chr18:12558400-12569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:12558400-12569200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr18:12558600-12570200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:12559600-12569200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:12559800-12574600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:12560600-12569200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:12566200-12569400	Weak transcription	HSMM	muscle
11	chr18:12567600-12568600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr18:12567600-12568600	Enhancers	Skeletal Muscle Female	skeletal muscle

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