Variant report

Variant	rs12576224
Chromosome Location	chr11:65669346-65669347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65669194-65671270	U87	brain:	n/a	n/a
2	POLR2A	chr11:65669294-65671270	U87	brain:	n/a	n/a
3	POLR2A	chr11:65669265-65670189	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:65654850-65671347	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65546756..65549287-chr11:65665686..65670324,5	K562	blood:
2	chr11:65666594..65669601-chr11:65818513..65821111,3	K562	blood:
3	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
4	chr11:65428811..65431023-chr11:65669064..65671228,2	K562	blood:
5	chr11:65630101..65632052-chr11:65668031..65671023,2	MCF-7	breast:
6	chr11:65667872..65669981-chr11:65728331..65730041,2	MCF-7	breast:

No data

Variant related genes	Relation type
FOSL1	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000238752	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10791831	0.94[ASN][1000 genomes]
rs10896065	0.97[ASN][1000 genomes]
rs11227338	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11542177	0.94[ASN][1000 genomes]
rs12099125	0.94[ASN][1000 genomes]
rs12099359	0.94[ASN][1000 genomes]
rs12576319	0.94[ASN][1000 genomes]
rs58192075	0.94[ASN][1000 genomes]
rs61515492	0.81[ASN][1000 genomes]
rs653955	0.94[ASN][1000 genomes]
rs73496412	0.94[ASN][1000 genomes]
rs73496423	0.92[ASN][1000 genomes]
rs73496424	0.94[ASN][1000 genomes]
rs73496435	0.94[ASN][1000 genomes]
rs7927841	0.84[ASN][1000 genomes]
rs7940700	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7941052	0.94[ASN][1000 genomes]
rs9326357	0.84[ASN][1000 genomes]
rs9326362	0.89[ASN][1000 genomes]
rs9919533	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65667600-65669600	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr11:65668000-65682600	Weak transcription	Aorta	Aorta
3	chr11:65668200-65669600	Weak transcription	HSMMtube	muscle
4	chr11:65668200-65670200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:65668200-65672000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:65668200-65672800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:65668400-65669400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:65668400-65669400	Weak transcription	HUVEC	blood vessel
9	chr11:65668400-65669600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:65668400-65670000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:65668400-65670200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:65668400-65670400	Enhancers	A549	lung
13	chr11:65668400-65670400	Enhancers	HepG2	liver
14	chr11:65668400-65671400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:65668400-65671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:65668400-65671400	Enhancers	K562	blood
17	chr11:65668400-65671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:65668400-65671800	Enhancers	NHDF-Ad	bronchial
19	chr11:65668400-65672000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:65668400-65672600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:65668600-65669400	Weak transcription	Placenta	Placenta
22	chr11:65668600-65669600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:65668600-65669800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:65668600-65669800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:65668600-65669800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:65668600-65670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:65668600-65670400	Weak transcription	Pancreas	Pancrea
28	chr11:65668600-65670400	Enhancers	Hela-S3	cervix
29	chr11:65668600-65671600	Enhancers	HMEC	breast
30	chr11:65668600-65671600	Enhancers	NH-A	brain
31	chr11:65668600-65671600	Enhancers	Osteobl	bone
32	chr11:65668600-65671800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:65668800-65669400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:65668800-65671600	Enhancers	NHEK	skin
35	chr11:65669000-65670000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:65669000-65670200	Weak transcription	Esophagus	oesophagus
37	chr11:65669000-65670400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:65669000-65670400	Enhancers	HSMM	muscle
39	chr11:65669000-65670600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:65669000-65671400	Enhancers	Fetal Thymus	thymus
41	chr11:65669000-65671600	Enhancers	NHLF	lung
42	chr11:65669200-65670200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:65669200-65671200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:65669200-65671200	Enhancers	Placenta Amnion	Placenta Amnion

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