Variant report

Variant	rs11227465
Chromosome Location	chr11:66115879-66115880
allele	A/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	FOXM1	chr11:66115278-66116131	GM12878	blood:	n/a	n/a
2	MAZ	chr11:66114931-66115911	K562	blood:	n/a	n/a
3	WRNIP1	chr11:66115383-66115979	GM12878	blood:	n/a	n/a
4	MAX	chr11:66115294-66115943	Hela-S3	cervix:	n/a	n/a
5	MAZ	chr11:66114444-66116220	IMR90	lung:	n/a	n/a
6	TEAD4	chr11:66115389-66115951	A549	lung:	n/a	n/a
7	FOSL2	chr11:66115310-66115936	A549	lung:	n/a	chr11:66115449-66115458
8	PAX5	chr11:66115318-66115895	GM12878	blood:	n/a	n/a
9	MAX	chr11:66115469-66115946	Hela-S3	cervix:	n/a	n/a
10	GTF3C2	chr11:66115373-66115904	Hela-S3	cervix:	n/a	n/a
11	ATF3	chr11:66115293-66116024	K562	blood:	n/a	chr11:66115330-66115339
12	IRF4	chr11:66115371-66115894	GM12878	blood:	n/a	n/a
13	ATF2	chr11:66115268-66115934	GM12878	blood:	n/a	n/a
14	BCL3	chr11:66115264-66115945	A549	lung:	n/a	chr11:66115324-66115337
15	USF1	chr11:66115347-66115941	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr11:66115160-66115892	PANC-1	pancreas:	n/a	n/a
17	E2F6	chr11:66115341-66116114	A549	lung:	n/a	n/a
18	POLR2A	chr11:66114688-66115992	HUVEC	blood vessel:	n/a	n/a
19	CUX1	chr11:66115400-66115887	K562	blood:	n/a	n/a
20	BRCA1	chr11:66115521-66115910	GM12878	blood:	n/a	n/a
21	ETS1	chr11:66115293-66116006	A549	lung:	n/a	chr11:66115771-66115786 chr11:66115711-66115726
22	CBX3	chr11:66115285-66115929	K562	blood:	n/a	n/a
23	REST	chr11:66115250-66115947	A549	lung:	n/a	chr11:66115338-66115351
24	BACH1	chr11:66115373-66115923	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr11:66115435-66115907	A549	lung:	n/a	chr11:66115449-66115458
26	FOSL2	chr11:66115241-66115977	SK-N-SH	brain:	n/a	chr11:66115449-66115458
27	POLR2A	chr11:66114904-66115901	K562	blood:	n/a	n/a
28	RCOR1	chr11:66115311-66115892	K562	blood:	n/a	n/a
29	GTF3C2	chr11:66114960-66115985	K562	blood:	n/a	n/a
30	ELF1	chr11:66115394-66115998	A549	lung:	n/a	chr11:66115433-66115445
31	GATA2	chr11:66115446-66115885	K562	blood:	n/a	n/a
32	TBL1XR1	chr11:66115293-66115886	GM12878	blood:	n/a	n/a
33	RUNX3	chr11:66115245-66115899	GM12878	blood:	n/a	n/a
34	TEAD4	chr11:66115169-66116064	SK-N-SH	brain:	n/a	n/a
35	ATF3	chr11:66115119-66116194	A549	lung:	n/a	chr11:66115330-66115339
36	GATA2	chr11:66115347-66116025	SH-SY5Y	brain:	n/a	n/a
37	ELK1	chr11:66115380-66115889	Hela-S3	cervix:	n/a	n/a
38	GATA3	chr11:66115252-66115984	MCF-7	breast:	n/a	n/a
39	MAX	chr11:66115154-66115972	K562	blood:	n/a	n/a
40	TEAD4	chr11:66115266-66115944	A549	lung:	n/a	n/a
41	TEAD4	chr11:66115264-66115960	K562	blood:	n/a	n/a
42	MBD4	chr11:66115337-66115904	HepG2	liver:	n/a	n/a
43	YY1	chr11:66115258-66115957	GM12878	blood:	n/a	chr11:66115366-66115380
44	EP300	chr11:66115285-66115957	A549	lung:	n/a	chr11:66115307-66115320
45	SP1	chr11:66115245-66115921	A549	lung:	n/a	n/a
46	ETS1	chr11:66115399-66115900	GM12878	blood:	n/a	chr11:66115771-66115786 chr11:66115711-66115726
47	PML	chr11:66115189-66116015	GM12878	blood:	n/a	n/a
48	NFATC1	chr11:66115392-66115951	GM12878	blood:	n/a	n/a
49	TCF12	chr11:66115298-66115943	A549	lung:	n/a	chr11:66115540-66115547
50	MAX	chr11:66115309-66115937	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66033076..66035331-chr11:66114524..66116038,2	MCF-7	breast:
2	chr11:66055638..66057992-chr11:66113909..66116651,3	K562	blood:
3	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
4	chr11:66054499..66057435-chr11:66115136..66117035,2	MCF-7	breast:
5	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
6	chr11:66078215..66080508-chr11:66113999..66115962,2	K562	blood:
7	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:
8	chr11:66033236..66035909-chr11:66113505..66116691,3	K562	blood:
9	chr11:66115381..66116970-chr11:66233175..66235277,2	MCF-7	breast:

Variant related genes	Relation type
BRMS1	TF binding region
B3GNT1	TF binding region
ENSG00000254855	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1039594	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1047029	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10750784	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791869	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791872	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10791874	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10791876	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896111	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896112	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896115	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896116	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11601396	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11823140	0.88[EUR][1000 genomes]
rs12416747	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576299	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12577196	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12785321	0.86[EUR][1000 genomes]
rs12785651	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12786563	0.86[EUR][1000 genomes]
rs12794121	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1546358	0.88[EUR][1000 genomes]
rs1784029	0.87[EUR][1000 genomes]
rs1785633	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1785639	0.88[EUR][1000 genomes]
rs1892940	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236679	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2279861	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279862	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282530	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2282531	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3016767	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3177514	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34043951	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4244813	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930177	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930178	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930179	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930181	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930360	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930362	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930363	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930366	0.85[EUR][1000 genomes]
rs4930368	0.86[EUR][1000 genomes]
rs55998145	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56123976	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56321771	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61891449	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6591213	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6591215	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6591217	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66810040	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7104253	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104570	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7105015	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7105401	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7107191	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7110944	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7117630	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7126018	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73489638	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7938676	0.87[EUR][1000 genomes]
rs7939111	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940980	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs905770	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs947978	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv897784	chr11:66111901-66123043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv897785	chr11:66112574-66123043	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66113600-66116000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:66113800-66116200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:66114000-66116000	Active TSS	Fetal Kidney	kidney
4	chr11:66114200-66116000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:66114200-66116000	Active TSS	Osteobl	bone
6	chr11:66114200-66116200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:66114400-66116000	Active TSS	HSMM	muscle
8	chr11:66114400-66116000	Active TSS	HSMMtube	muscle
9	chr11:66114400-66116200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:66114400-66116200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:66114400-66116200	Active TSS	Rectal Smooth Muscle	rectum
12	chr11:66114400-66116400	Active TSS	Fetal Intestine Large	intestine
13	chr11:66114600-66116000	Active TSS	Aorta	Aorta
14	chr11:66114600-66116000	Active TSS	Brain Substantia Nigra	brain
15	chr11:66114600-66116000	Active TSS	Left Ventricle	heart
16	chr11:66114600-66116000	Active TSS	Right Ventricle	heart
17	chr11:66114600-66116400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:66114800-66116000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr11:66114800-66116000	Active TSS	Brain Hippocampus Middle	brain
20	chr11:66114800-66116000	Active TSS	Gastric	stomach
21	chr11:66114800-66116200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:66114800-66116200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:66114800-66116200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:66114800-66116600	Active TSS	Duodenum Mucosa	Duodenum
25	chr11:66115000-66116000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:66115000-66116000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:66115000-66116000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:66115000-66116000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:66115000-66116000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:66115000-66116000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:66115000-66116000	Active TSS	Brain Germinal Matrix	brain
32	chr11:66115000-66116000	Active TSS	Right Atrium	heart
33	chr11:66115000-66116200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:66115000-66116200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:66115000-66116200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:66115000-66116200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:66115000-66116400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr11:66115400-66116000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr11:66115400-66116000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:66115400-66116000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr11:66115400-66116000	Flanking Active TSS	Colonic Mucosa	Colon
42	chr11:66115400-66116000	Flanking Active TSS	Fetal Thymus	thymus
43	chr11:66115400-66116000	Flanking Active TSS	Thymus	Thymus
44	chr11:66115600-66116000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:66115600-66116000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:66115600-66116000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:66115600-66116000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:66115600-66116000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr11:66115600-66116000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:66115600-66116000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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