Variant report

Variant	rs7940700
Chromosome Location	chr11:65670997-65670998
allele	C/T
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	NFIC	chr11:65670401-65671273	SK-N-SH	brain:	n/a	n/a
2	MAX	chr11:65670291-65671281	A549	lung:	n/a	chr11:65670478-65670488
3	JUND	chr11:65670657-65671006	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr11:65670574-65671014	SK-N-SH	brain:	n/a	chr11:65670666-65670684 chr11:65670669-65670682
5	SP1	chr11:65670404-65671132	A549	lung:	n/a	chr11:65670555-65670564
6	POLR2A	chr11:65669194-65671270	U87	brain:	n/a	n/a
7	MAX	chr11:65670313-65671189	A549	lung:	n/a	chr11:65670478-65670488
8	POLR2A	chr11:65670374-65671081	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr11:65670444-65671227	SK-N-SH	brain:	n/a	chr11:65670729-65670739
10	FOSL2	chr11:65670415-65671141	SK-N-SH	brain:	n/a	n/a
11	FOSL2	chr11:65670572-65671005	SK-N-SH	brain:	n/a	n/a
12	FOXM1	chr11:65670429-65671143	SK-N-SH	brain:	n/a	n/a
13	MYC	chr11:65670525-65671028	Hela-S3	cervix:	n/a	n/a
14	TEAD4	chr11:65670333-65671065	K562	blood:	n/a	chr11:65670783-65670792
15	EP300	chr11:65670652-65671092	Hela-S3	cervix:	n/a	n/a
16	EP300	chr11:65670461-65671268	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:65670485-65671072	SK-N-SH	brain:	n/a	n/a
18	TEAD4	chr11:65670546-65671013	H1-hESC	embryonic stem cell:	n/a	chr11:65670783-65670792
19	FOSL2	chr11:65670582-65671007	A549	lung:	n/a	n/a
20	JUND	chr11:65670408-65671517	SK-N-SH	brain:	n/a	n/a
21	SIN3AK20	chr11:65670388-65671247	PANC-1	pancreas:	n/a	n/a
22	MAX	chr11:65670399-65671147	ECC-1	luminal epithelium:	n/a	chr11:65670478-65670488
23	JUND	chr11:65670623-65671008	K562	blood:	n/a	n/a
24	POLR2A	chr11:65669294-65671270	U87	brain:	n/a	n/a
25	TCF12	chr11:65670279-65671210	SK-N-SH	brain:	n/a	n/a
26	CBX3	chr11:65670467-65671057	K562	blood:	n/a	n/a
27	GTF2F1	chr11:65670636-65671045	Hela-S3	cervix:	n/a	chr11:65670766-65670777
28	TCF12	chr11:65670408-65671260	SK-N-SH	brain:	n/a	n/a
29	EP300	chr11:65670582-65671030	K562	blood:	n/a	n/a
30	YY1	chr11:65670574-65671026	K562	blood:	n/a	n/a
31	RCOR1	chr11:65670607-65670997	Hela-S3	cervix:	n/a	n/a
32	NFIC	chr11:65670521-65671140	ECC-1	luminal epithelium:	n/a	n/a
33	JUND	chr11:65670590-65671022	Hela-S3	cervix:	n/a	n/a
34	PBX3	chr11:65670436-65671123	SK-N-SH	brain:	n/a	n/a
35	FOSL1	chr11:65670522-65671010	K562	blood:	n/a	n/a
36	JUND	chr11:65670345-65671156	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr11:65670360-65671052	K562	blood:	n/a	n/a
38	PBX3	chr11:65670520-65671147	SK-N-SH	brain:	n/a	n/a
39	MAX	chr11:65670480-65671130	SK-N-SH	brain:	n/a	n/a
40	SP1	chr11:65670344-65671243	HCT-116	colon:	n/a	chr11:65670555-65670564
41	TEAD4	chr11:65670517-65671140	ECC-1	luminal epithelium:	n/a	chr11:65670783-65670792
42	RXRA	chr11:65670389-65671163	SK-N-SH	brain:	n/a	chr11:65670838-65670851 chr11:65670836-65670852 chr11:65670838-65670851 chr11:65670838-65670852 chr11:65670838-65670851
43	EP300	chr11:65670423-65671259	A549	lung:	n/a	n/a
44	TCF12	chr11:65670363-65671229	A549	lung:	n/a	n/a
45	MAX	chr11:65670354-65671634	HCT-116	colon:	n/a	chr11:65670478-65670488
46	NR2F2	chr11:65670247-65671230	K562	blood:	n/a	n/a
47	POLR2A	chr11:65670203-65671448	PANC-1	pancreas:	n/a	n/a
48	FOSL2	chr11:65670467-65671121	A549	lung:	n/a	n/a
49	TEAD4	chr11:65670492-65671071	A549	lung:	n/a	chr11:65670783-65670792
50	CHD2	chr11:65670640-65671074	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65667930..65670445-chr11:65670450..65672098,2	MCF-7	breast:
2	chr11:65670289..65671086-chr9:93955388..93956250,2	Hela-S3	cervix:
3	chr11:65428811..65431023-chr11:65669064..65671228,2	K562	blood:
4	chr11:65630101..65632052-chr11:65668031..65671023,2	MCF-7	breast:

Variant related genes	Relation type
FOSL1	TF binding region
ENSG00000173039	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175592	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10791831	0.97[ASN][1000 genomes]
rs10791832	1.00[CEU][hapmap]
rs10896065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11227337	1.00[EUR][1000 genomes]
rs11227338	0.94[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[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12099125	0.97[ASN][1000 genomes]
rs12099359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12288911	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12289280	1.00[EUR][1000 genomes]
rs12574568	1.00[JPT][hapmap]
rs12575735	1.00[JPT][hapmap]
rs12576224	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12576319	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2241304	1.00[JPT][hapmap]
rs2276015	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs28372938	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs3825068	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4930169	0.89[JPT][hapmap];1.00[MEX][hapmap]
rs561869	1.00[MEX][hapmap]
rs565921	1.00[MEX][hapmap]
rs568423	1.00[MEX][hapmap]
rs575085	1.00[TSI][hapmap]
rs58192075	0.97[ASN][1000 genomes]
rs601314	1.00[MEX][hapmap]
rs61515492	0.83[ASN][1000 genomes]
rs641323	1.00[MEX][hapmap]
rs653955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs669300	1.00[MEX][hapmap]
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]
rs7941052	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326357	0.86[ASN][1000 genomes]
rs9326360	1.00[CEU][hapmap]
rs9326361	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9326362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9795434	1.00[CEU][hapmap]
rs9919533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65668000-65682600	Weak transcription	Aorta	Aorta
2	chr11:65668200-65672000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:65668200-65672800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:65668400-65671400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:65668400-65671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:65668400-65671400	Enhancers	K562	blood
7	chr11:65668400-65671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:65668400-65671800	Enhancers	NHDF-Ad	bronchial
9	chr11:65668400-65672000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:65668400-65672600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:65668600-65671600	Enhancers	HMEC	breast
12	chr11:65668600-65671600	Enhancers	NH-A	brain
13	chr11:65668600-65671600	Enhancers	Osteobl	bone
14	chr11:65668600-65671800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:65668800-65671600	Enhancers	NHEK	skin
16	chr11:65669000-65671400	Enhancers	Fetal Thymus	thymus
17	chr11:65669000-65671600	Enhancers	NHLF	lung
18	chr11:65669200-65671200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:65669200-65671200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:65669400-65671000	Enhancers	Placenta	Placenta
21	chr11:65669400-65671400	Enhancers	HUVEC	blood vessel
22	chr11:65669800-65671200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65669800-65671400	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:65669800-65671600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:65670000-65671000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:65670000-65671000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:65670000-65671800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:65670200-65671000	Enhancers	Esophagus	oesophagus
29	chr11:65670400-65671000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:65670400-65671000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:65670400-65671000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:65670400-65671000	Flanking Active TSS	HSMM	muscle
33	chr11:65670400-65671200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:65670400-65671200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr11:65670400-65671200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:65670400-65671200	Flanking Active TSS	A549	lung
37	chr11:65670400-65671200	Flanking Active TSS	HSMMtube	muscle
38	chr11:65670400-65671400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr11:65670400-65671400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:65670400-65671400	Flanking Active TSS	Hela-S3	cervix
41	chr11:65670600-65671000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr11:65670600-65671000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:65670600-65671200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr11:65670600-65671200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr11:65670600-65671200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:65670600-65671400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:65670600-65671400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:65670800-65671000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr11:65670800-65671000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr11:65670800-65671000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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