Variant report

Variant	rs9919533
Chromosome Location	chr11:65669903-65669904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:65669826-65670139	K562	blood:	n/a	n/a
2	POLR2A	chr11:65669194-65671270	U87	brain:	n/a	n/a
3	POLR2A	chr11:65669294-65671270	U87	brain:	n/a	n/a
4	POLR2A	chr11:65669358-65670174	U87	brain:	n/a	n/a
5	POLR2A	chr11:65669358-65670198	U87	brain:	n/a	n/a
6	POLR2A	chr11:65669847-65670009	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:65669265-65670189	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:65654850-65671347	PANC-1	pancreas:	n/a	n/a
9	MAFK	chr11:65669514-65669915	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65546756..65549287-chr11:65665686..65670324,5	K562	blood:
2	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
3	chr11:65428811..65431023-chr11:65669064..65671228,2	K562	blood:
4	chr11:65630101..65632052-chr11:65668031..65671023,2	MCF-7	breast:
5	chr11:65667872..65669981-chr11:65728331..65730041,2	MCF-7	breast:

No data

Variant related genes	Relation type
FOSL1	TF binding region
ENSG00000175827	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10791831	0.97[ASN][1000 genomes]
rs10896065	1.00[ASN][1000 genomes]
rs11227337	1.00[EUR][1000 genomes]
rs11227338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11542177	0.97[ASN][1000 genomes]
rs11825885	1.00[EUR][1000 genomes]
rs12099125	0.97[ASN][1000 genomes]
rs12099359	0.97[ASN][1000 genomes]
rs12288911	1.00[EUR][1000 genomes]
rs12289280	1.00[EUR][1000 genomes]
rs12576224	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12576319	0.97[ASN][1000 genomes]
rs58192075	0.97[ASN][1000 genomes]
rs61515492	0.83[ASN][1000 genomes]
rs653955	0.97[ASN][1000 genomes]
rs67232706	0.81[ASN][1000 genomes]
rs67530871	0.81[ASN][1000 genomes]
rs73496412	0.97[ASN][1000 genomes]
rs73496423	0.94[ASN][1000 genomes]
rs73496424	0.97[ASN][1000 genomes]
rs73496435	0.97[ASN][1000 genomes]
rs7927841	0.86[ASN][1000 genomes]
rs7940700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941052	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326357	0.86[ASN][1000 genomes]
rs9326361	1.00[EUR][1000 genomes]
rs9326362	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv39194	chr11:65665530-65672457	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65668000-65682600	Weak transcription	Aorta	Aorta
2	chr11:65668200-65670200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:65668200-65672000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:65668200-65672800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:65668400-65670000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:65668400-65670200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:65668400-65670400	Enhancers	A549	lung
8	chr11:65668400-65670400	Enhancers	HepG2	liver
9	chr11:65668400-65671400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:65668400-65671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:65668400-65671400	Enhancers	K562	blood
12	chr11:65668400-65671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:65668400-65671800	Enhancers	NHDF-Ad	bronchial
14	chr11:65668400-65672000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:65668400-65672600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:65668600-65670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:65668600-65670400	Weak transcription	Pancreas	Pancrea
18	chr11:65668600-65670400	Enhancers	Hela-S3	cervix
19	chr11:65668600-65671600	Enhancers	HMEC	breast
20	chr11:65668600-65671600	Enhancers	NH-A	brain
21	chr11:65668600-65671600	Enhancers	Osteobl	bone
22	chr11:65668600-65671800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:65668800-65671600	Enhancers	NHEK	skin
24	chr11:65669000-65670000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:65669000-65670200	Weak transcription	Esophagus	oesophagus
26	chr11:65669000-65670400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:65669000-65670400	Enhancers	HSMM	muscle
28	chr11:65669000-65670600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:65669000-65671400	Enhancers	Fetal Thymus	thymus
30	chr11:65669000-65671600	Enhancers	NHLF	lung
31	chr11:65669200-65670200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:65669200-65671200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:65669200-65671200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:65669400-65670000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr11:65669400-65670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:65669400-65670400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:65669400-65671000	Enhancers	Placenta	Placenta
38	chr11:65669400-65671400	Enhancers	HUVEC	blood vessel
39	chr11:65669600-65670000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:65669600-65670000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:65669600-65670400	Enhancers	HSMMtube	muscle
42	chr11:65669800-65670000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:65669800-65670800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr11:65669800-65671200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:65669800-65671400	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:65669800-65671600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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