Variant report

Variant	rs3812491
Chromosome Location	chr8:120219129-120219130
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	MYC	chr8:120219061-120219962	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr8:120219071-120219656	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:120218933-120220478	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375 chr8:120220236-120220244
4	STAT3	chr8:120219128-120219599	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr8:120218994-120220201	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120220111-120220121 chr8:120219365-120219375 chr8:120220110-120220122 chr8:120220112-120220120 chr8:120219365-120219375
6	FOS	chr8:120218991-120219725	MCF10A-Er-Src	breast:	n/a	chr8:120219365-120219375 chr8:120219365-120219375 chr8:120219365-120219375
7	BRCA1	chr8:120218985-120219728	Hela-S3	cervix:	n/a	n/a
8	GATA3	chr8:120219001-120220649	MCF-7	breast:	n/a	chr8:120220110-120220117
9	POLR2A	chr8:120218818-120224415	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr8:120218806-120219184	HCT-116	colon:	n/a	n/a
11	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
12	STAT3	chr8:120219051-120219727	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120114312..120117094-chr8:120216104..120219315,3	MCF-7	breast:
2	chr17:56707810..56710447-chr8:120218962..120221628,2	MCF-7	breast:

Variant related genes	Relation type
MAL2	TF binding region
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10505354	0.81[ASN][1000 genomes]
rs11990379	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11994152	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11997485	1.00[ASN][1000 genomes]
rs1364704	0.85[CHD][hapmap]
rs1364713	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1425068	1.00[CHB][hapmap];1.00[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]
rs16892237	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]
rs2303398	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3739419	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3829047	1.00[CEU][hapmap]
rs3829048	1.00[CEU][hapmap]
rs41319147	1.00[CHB][hapmap];1.00[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]
rs929953	0.92[LWK][hapmap]

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:22 , 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	chr8:120218200-120219400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:120218800-120219600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:120218800-120220000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:120218800-120220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:120218800-120221600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr8:120219000-120219600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr8:120219000-120219600	Bivalent Enhancer	GM12878-XiMat	blood
17	chr8:120219000-120219800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:120219000-120220000	Weak transcription	Esophagus	oesophagus
19	chr8:120219000-120220000	Bivalent Enhancer	HepG2	liver
20	chr8:120219000-120220200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:120219000-120220400	Flanking Active TSS	NHEK	skin
22	chr8:120219000-120221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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