Variant report

Variant	rs16891980
Chromosome Location	chr8:120099041-120099042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120098923..120102806-chr8:120218978..120221966,5	MCF-7	breast:
2	chr8:120098799..120099368-chr8:120366034..120366970,2	MCF-7	breast:
3	chr8:120098847..120099676-chr8:120275630..120276334,2	MCF-7	breast:
4	chr8:120097813..120100661-chr8:120254191..120255836,2	MCF-7	breast:
5	chr8:120098479..120099416-chr8:120275966..120276789,2	MCF-7	breast:
6	chr8:120098575..120099274-chr8:120449593..120450158,2	MCF-7	breast:
7	chr8:120096968..120103471-chr8:120218555..120222838,8	MCF-7	breast:
8	chr8:120097671..120100491-chr8:120108931..120111422,2	MCF-7	breast:
9	chr8:120098774..120099300-chr8:120366134..120366847,2	MCF-7	breast:
10	chr8:120098391..120099543-chr8:120449221..120451236,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11573817	1.00[CEU][hapmap]
rs11784973	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16891959	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16891997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16892015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16892025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16892203	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs16892211	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs57794504	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57984835	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58657683	0.88[EUR][1000 genomes]
rs58693451	0.88[EUR][1000 genomes]
rs60384705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61123918	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61358846	0.91[AMR][1000 genomes]
rs61560423	0.88[EUR][1000 genomes]
rs61594459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6469808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989178	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6989291	1.00[JPT][hapmap]
rs6993678	0.85[CHB][hapmap]
rs73327282	0.88[EUR][1000 genomes]
rs73329312	0.88[EUR][1000 genomes]
rs9693461	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120098200-120099600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:120098400-120099200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:120098600-120099200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:120098600-120099200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:120098600-120099200	Enhancers	Liver	Liver
6	chr8:120098600-120099400	Enhancers	Hela-S3	cervix
7	chr8:120098600-120099600	Enhancers	Fetal Lung	lung
8	chr8:120098600-120099800	Enhancers	Fetal Stomach	stomach
9	chr8:120098800-120099800	Enhancers	Adipose Nuclei	Adipose
10	chr8:120098800-120100200	Enhancers	Fetal Intestine Small	intestine
11	chr8:120099000-120099200	Enhancers	NHLF	lung
12	chr8:120099000-120099400	Enhancers	Fetal Kidney	kidney
13	chr8:120099000-120099400	Enhancers	Stomach Mucosa	stomach
14	chr8:120099000-120103600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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