Variant report

Variant	rs529889792
Chromosome Location	chr11:67142735-67142736
allele	-/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	EP300	chr11:67140889-67143973	A549	lung:	n/a	chr11:67141604-67141611 chr11:67143538-67143554 chr11:67140948-67140964 chr11:67141185-67141199
2	SIX5	chr11:67140867-67142749	A549	lung:	n/a	chr11:67141928-67141937
3	EGR1	chr11:67142693-67143134	K562	blood:	n/a	n/a
4	EP300	chr11:67140327-67143351	ECC-1	luminal epithelium:	n/a	chr11:67141604-67141611 chr11:67140948-67140964 chr11:67141185-67141199 chr11:67140686-67140702
5	SP1	chr11:67140841-67144091	A549	lung:	n/a	chr11:67143748-67143762 chr11:67141289-67141303 chr11:67141574-67141588 chr11:67141470-67141484 chr11:67141363-67141372 chr11:67141370-67141379 chr11:67141258-67141272 chr11:67141368-67141380 chr11:67140960-67140974 chr11:67140956-67140968 chr11:67143704-67143718 chr11:67141262-67141276 chr11:67143744-67143753 chr11:67141362-67141374 chr11:67142152-67142166 chr11:67141462-67141474 chr11:67142824-67142838 chr11:67140957-67140966 chr11:67142668-67142677 chr11:67143749-67143758 chr11:67141369-67141378 chr11:67141462-67141474 chr11:67140958-67140967 chr11:67141362-67141374 chr11:67141463-67141472 chr11:67141255-67141269 chr11:67142658-67142670 chr11:67142659-67142668 chr11:67142655-67142669 chr11:67142659-67142669 chr11:67141365-67141379 chr11:67141370-67141379 chr11:67143743-67143757 chr11:67141244-67141258 chr11:67141368-67141380 chr11:67142658-67142670 chr11:67140956-67140968
6	CEBPB	chr11:67140890-67142772	A549	lung:	n/a	n/a
7	SP1	chr11:67141010-67143373	HCT-116	colon:	n/a	chr11:67141289-67141303 chr11:67141574-67141588 chr11:67141470-67141484 chr11:67141363-67141372 chr11:67141370-67141379 chr11:67141258-67141272 chr11:67141368-67141380 chr11:67141262-67141276 chr11:67141362-67141374 chr11:67142152-67142166 chr11:67141462-67141474 chr11:67142824-67142838 chr11:67142668-67142677 chr11:67141369-67141378 chr11:67141462-67141474 chr11:67141362-67141374 chr11:67141463-67141472 chr11:67141255-67141269 chr11:67142658-67142670 chr11:67142659-67142668 chr11:67142655-67142669 chr11:67142659-67142669 chr11:67141365-67141379 chr11:67141370-67141379 chr11:67141244-67141258 chr11:67141368-67141380 chr11:67142658-67142670
8	MAX	chr11:67140849-67144150	A549	lung:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
9	RCOR1	chr11:67140534-67142921	IMR90	lung:	n/a	n/a
10	POLR2A	chr11:67140497-67142891	U87	brain:	n/a	n/a
11	PBX3	chr11:67142722-67143255	SK-N-SH	brain:	n/a	n/a
12	FOXA2	chr11:67141147-67143346	A549	lung:	n/a	chr11:67142411-67142423
13	POLR2A	chr11:67138593-67142764	PANC-1	pancreas:	n/a	n/a
14	JUND	chr11:67142555-67143237	A549	lung:	n/a	chr11:67142827-67142836
15	SP1	chr11:67140380-67144001	A549	lung:	n/a	chr11:67143748-67143762 chr11:67141289-67141303 chr11:67141574-67141588 chr11:67141470-67141484 chr11:67141363-67141372 chr11:67141370-67141379 chr11:67141258-67141272 chr11:67141368-67141380 chr11:67140960-67140974 chr11:67140956-67140968 chr11:67143704-67143718 chr11:67141262-67141276 chr11:67143744-67143753 chr11:67141362-67141374 chr11:67142152-67142166 chr11:67141462-67141474 chr11:67142824-67142838 chr11:67140957-67140966 chr11:67142668-67142677 chr11:67143749-67143758 chr11:67141369-67141378 chr11:67141462-67141474 chr11:67140958-67140967 chr11:67141362-67141374 chr11:67141463-67141472 chr11:67141255-67141269 chr11:67142658-67142670 chr11:67142659-67142668 chr11:67142655-67142669 chr11:67142659-67142669 chr11:67141365-67141379 chr11:67141370-67141379 chr11:67143743-67143757 chr11:67141244-67141258 chr11:67141368-67141380 chr11:67142658-67142670 chr11:67140956-67140968
16	TCF12	chr11:67137930-67144339	A549	lung:	n/a	chr11:67138193-67138203 chr11:67139958-67139965 chr11:67139242-67139249 chr11:67141661-67141671 chr11:67144056-67144066 chr11:67138192-67138199 chr11:67142524-67142532 chr11:67139957-67139967 chr11:67142516-67142526 chr11:67139956-67139963
17	NFIC	chr11:67140935-67142750	ECC-1	luminal epithelium:	n/a	n/a
18	MYC	chr11:67140794-67142764	A549	lung:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
19	BCL3	chr11:67140853-67142816	A549	lung:	n/a	chr11:67140958-67140967 chr11:67141685-67141698
20	EGR1	chr11:67141082-67143319	HCT-116	colon:	n/a	chr11:67141407-67141417 chr11:67142653-67142668 chr11:67142126-67142136 chr11:67141364-67141377 chr11:67141366-67141376 chr11:67141244-67141258 chr11:67142663-67142676 chr11:67141790-67141800 chr11:67141687-67141697 chr11:67141243-67141256 chr11:67141363-67141378 chr11:67142123-67142136 chr11:67141364-67141377 chr11:67142662-67142672 chr11:67141788-67141801 chr11:67142654-67142667 chr11:67142654-67142667
21	PBX3	chr11:67140820-67142811	A549	lung:	n/a	n/a
22	MXI1	chr11:67136428-67142794	IMR90	lung:	n/a	n/a
23	ZNF384	chr11:67142560-67143117	K562	blood:	n/a	n/a
24	POLR2A	chr11:67140073-67142831	U87	brain:	n/a	n/a
25	TEAD4	chr11:67141027-67143188	A549	lung:	n/a	n/a
26	TAF1	chr11:67141247-67142755	A549	lung:	n/a	n/a
27	EP300	chr11:67140820-67143932	A549	lung:	n/a	chr11:67141604-67141611 chr11:67143538-67143554 chr11:67140948-67140964 chr11:67141185-67141199
28	NFIC	chr11:67140908-67143418	SK-N-SH	brain:	n/a	n/a
29	EP300	chr11:67140335-67143357	SK-N-SH	brain:	n/a	chr11:67141604-67141611 chr11:67140948-67140964 chr11:67141185-67141199 chr11:67140686-67140702
30	TCF12	chr11:67140245-67143410	SK-N-SH	brain:	n/a	chr11:67141661-67141671 chr11:67142524-67142532 chr11:67142516-67142526
31	GATA3	chr11:67140307-67143351	A549	lung:	n/a	n/a
32	RXRA	chr11:67142721-67143283	SK-N-SH	brain:	n/a	chr11:67143024-67143033
33	MAX	chr11:67137318-67145655	A549	lung:	n/a	chr11:67138167-67138177 chr11:67141256-67141266 chr11:67138019-67138029 chr11:67141367-67141377 chr11:67139214-67139223
34	JUND	chr11:67138885-67143692	A549	lung:	n/a	chr11:67141685-67141694 chr11:67141991-67142001 chr11:67141990-67142002 chr11:67141990-67142001 chr11:67141992-67142000 chr11:67141993-67142004 chr11:67142329-67142340 chr11:67141991-67142001 chr11:67140956-67140965 chr11:67142827-67142836 chr11:67141991-67142001
35	POLR2A	chr11:67140497-67142859	U87	brain:	n/a	n/a
36	EGR1	chr11:67141049-67143541	HCT-116	colon:	n/a	chr11:67141407-67141417 chr11:67142653-67142668 chr11:67142126-67142136 chr11:67141364-67141377 chr11:67141366-67141376 chr11:67141244-67141258 chr11:67142663-67142676 chr11:67141790-67141800 chr11:67141687-67141697 chr11:67141243-67141256 chr11:67141363-67141378 chr11:67142123-67142136 chr11:67141364-67141377 chr11:67142662-67142672 chr11:67141788-67141801 chr11:67142654-67142667 chr11:67142654-67142667
37	TEAD4	chr11:67141538-67142853	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr11:67137182-67142767	K562	blood:	n/a	n/a
39	GATA3	chr11:67138557-67145601	A549	lung:	n/a	n/a
40	MAZ	chr11:67138423-67143309	IMR90	lung:	n/a	chr11:67141256-67141266 chr11:67141367-67141377 chr11:67139214-67139223

No.	Distal block	Cell Line	Cell type
1	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
2	chr11:67083205..67091159-chr11:67142322..67150295,9	MCF-7	breast:
3	chr1:110752769..110754407-chr11:67141303..67143426,2	MCF-7	breast:
4	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
5	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
6	chr11:67142650..67146172-chr11:67164311..67167140,3	K562	blood:
7	chr11:67141172..67143536-chr11:67171363..67173683,2	K562	blood:
8	chr11:67141684..67144612-chr14:62266117..62268626,2	MCF-7	breast:
9	chr11:67077940..67083214-chr11:67140082..67142904,6	MCF-7	breast:
10	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
11	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
12	chr11:67140774..67143112-chr11:67157579..67159214,2	K562	blood:
13	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
14	chr11:67085218..67086846-chr11:67141974..67144447,2	K562	blood:
15	chr11:67078342..67081725-chr11:67139517..67143464,5	MCF-7	breast:
16	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
17	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
18	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256514	TF binding region
CLCF1	TF binding region
ENSG00000172613	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000116396	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172932	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
13	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
15	esv3334171	chr11:67142026-67144324	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:67141400-67142800	Flanking Active TSS	Hela-S3	cervix
3	chr11:67141600-67143600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr11:67141800-67142800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr11:67141800-67143200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:67141800-67143200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:67141800-67143200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr11:67141800-67143200	Bivalent Enhancer	Placenta	Placenta
9	chr11:67141800-67143600	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:67141800-67143600	Enhancers	Esophagus	oesophagus
11	chr11:67141800-67143600	Enhancers	Pancreas	Pancrea
12	chr11:67141800-67143800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:67141800-67143800	Bivalent Enhancer	Fetal Brain Female	brain
14	chr11:67141800-67144000	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr11:67141800-67144200	Bivalent Enhancer	Brain Germinal Matrix	brain
16	chr11:67141800-67144200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:67141800-67152200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:67142000-67142800	Bivalent Enhancer	Primary T cells from cord blood	blood
19	chr11:67142000-67143200	Enhancers	Primary B cells from cord blood	blood
20	chr11:67142000-67143200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:67142000-67143400	Enhancers	Fetal Lung	lung
22	chr11:67142000-67143600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:67142000-67143600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:67142000-67143600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:67142000-67143600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr11:67142000-67143800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr11:67142000-67144000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:67142000-67144000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:67142000-67144000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:67142000-67144000	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:67142000-67144000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr11:67142000-67144200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr11:67142000-67144200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr11:67142000-67144600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:67142000-67147600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:67142000-67147600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:67142000-67149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:67142200-67143000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:67142200-67143000	Enhancers	Fetal Intestine Small	intestine
40	chr11:67142200-67143200	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr11:67142200-67143200	Enhancers	Right Ventricle	heart
42	chr11:67142200-67143200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr11:67142200-67143200	Enhancers	HSMMtube	muscle
44	chr11:67142200-67143400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:67142200-67143400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr11:67142200-67143600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:67142200-67143800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr11:67142200-67143800	Enhancers	Brain Anterior Caudate	brain
49	chr11:67142200-67144800	Weak transcription	Spleen	Spleen
50	chr11:67142200-67145000	Weak transcription	Gastric	stomach

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