Variant report

Variant	rs16892237
Chromosome Location	chr8:120218914-120218915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:120218818-120224415	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:120218806-120219184	HCT-116	colon:	n/a	n/a
3	FOSL1	chr8:120218876-120220707	HCT-116	colon:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375 chr8:120220236-120220244

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120216550..120218940-chr8:120219110..120222683,3	MCF-7	breast:
2	chr8:120114312..120117094-chr8:120216104..120219315,3	MCF-7	breast:

Variant related genes	Relation type
MAL2	TF binding region
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10505354	0.81[ASN][1000 genomes]
rs11990379	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11994152	1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11997485	1.00[ASN][1000 genomes]
rs1364713	0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1425068	1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[ASN][1000 genomes]
rs16891948	1.00[CEU][hapmap]
rs16891954	1.00[CEU][hapmap]
rs16891984	1.00[CEU][hapmap]
rs16892035	1.00[CEU][hapmap]
rs16892053	1.00[CEU][hapmap]
rs2303398	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3739419	0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3812491	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829047	1.00[CEU][hapmap]
rs3829048	1.00[CEU][hapmap]
rs41319147	1.00[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55636028	0.91[ASN][1000 genomes]
rs55714432	1.00[ASN][1000 genomes]
rs56354938	1.00[ASN][1000 genomes]
rs56398539	0.91[ASN][1000 genomes]
rs56840596	0.91[ASN][1000 genomes]
rs59699923	0.80[ASN][1000 genomes]
rs60738905	0.80[ASN][1000 genomes]
rs60879825	0.91[ASN][1000 genomes]
rs73709667	1.00[ASN][1000 genomes]
rs73709668	1.00[ASN][1000 genomes]
rs73709669	1.00[ASN][1000 genomes]
rs73709670	1.00[ASN][1000 genomes]
rs73709671	1.00[ASN][1000 genomes]
rs73709673	1.00[ASN][1000 genomes]
rs73709674	1.00[ASN][1000 genomes]
rs73709675	1.00[ASN][1000 genomes]
rs73709676	1.00[ASN][1000 genomes]
rs73709677	1.00[ASN][1000 genomes]
rs73709680	1.00[ASN][1000 genomes]
rs73709681	1.00[ASN][1000 genomes]
rs73709684	0.81[ASN][1000 genomes]
rs73709685	0.81[ASN][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120215200-120219400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:120215200-120220000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:120215400-120219600	Enhancers	HMEC	breast
4	chr8:120215400-120219800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:120215600-120219400	Enhancers	Stomach Mucosa	stomach
6	chr8:120216200-120219400	Enhancers	Hela-S3	cervix
7	chr8:120216200-120220000	Weak transcription	Liver	Liver
8	chr8:120216400-120220000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:120217200-120220000	Weak transcription	Adipose Nuclei	Adipose
10	chr8:120217800-120219000	Enhancers	NHEK	skin
11	chr8:120218200-120219400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:120218600-120219000	Enhancers	Esophagus	oesophagus
13	chr8:120218800-120219000	Enhancers	Right Ventricle	heart
14	chr8:120218800-120219600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:120218800-120220000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:120218800-120220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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