Variant report

Variant	rs550187960
Chromosome Location	chr11:67143413-67143414
allele	G/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	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
3	REST	chr11:67142935-67144099	A549	lung:	n/a	chr11:67143221-67143241 chr11:67143223-67143231 chr11:67143059-67143072 chr11:67143569-67143582
4	BCL3	chr11:67142738-67143900	A549	lung:	n/a	n/a
5	MAX	chr11:67140849-67144150	A549	lung:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
6	POLR2A	chr11:67143302-67143942	A549	lung:	n/a	n/a
7	POLR2A	chr11:67143383-67143724	K562	blood:	n/a	n/a
8	MXI1	chr11:67143327-67143438	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr11:67143210-67143464	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF143	chr11:67143280-67143597	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr11:67143105-67143588	H1-hESC	embryonic stem cell:	n/a	n/a
12	ELF1	chr11:67143077-67143502	A549	lung:	n/a	n/a
13	POLR2A	chr11:67143377-67143592	A549	lung:	n/a	n/a
14	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
15	POLR2A	chr11:67142775-67143931	A549	lung:	n/a	n/a
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	SIN3AK20	chr11:67143289-67143949	A549	lung:	n/a	n/a
18	TAF1	chr11:67142889-67144010	A549	lung:	n/a	n/a
19	ZBTB7A	chr11:67143165-67143470	K562	blood:	n/a	n/a
20	BACH1	chr11:67143081-67143485	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF263	chr11:67143369-67143621	HEK293-T-REx	kidney:	n/a	n/a
22	BCL3	chr11:67142887-67143940	A549	lung:	n/a	n/a
23	POLR2A	chr11:67143372-67143599	A549	lung:	n/a	n/a
24	FOSL2	chr11:67142798-67143786	A549	lung:	n/a	chr11:67142827-67142836
25	EP300	chr11:67140820-67143932	A549	lung:	n/a	chr11:67141604-67141611 chr11:67143538-67143554 chr11:67140948-67140964 chr11:67141185-67141199
26	NFIC	chr11:67140908-67143418	SK-N-SH	brain:	n/a	n/a
27	MAX	chr11:67137318-67145655	A549	lung:	n/a	chr11:67138167-67138177 chr11:67141256-67141266 chr11:67138019-67138029 chr11:67141367-67141377 chr11:67139214-67139223
28	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
29	POLR2A	chr11:67143380-67143878	MCF-7	breast:	n/a	n/a
30	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
31	POLR2A	chr11:67143249-67143702	K562	blood:	n/a	n/a
32	REST	chr11:67142930-67143567	A549	lung:	n/a	chr11:67143221-67143241 chr11:67143223-67143231 chr11:67143059-67143072
33	GATA3	chr11:67138557-67145601	A549	lung:	n/a	n/a

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	chr11:67143181..67146172-chr11:67164311..67167140,2	K562	blood:
9	chr11:67141684..67144612-chr14:62266117..62268626,2	MCF-7	breast:
10	chr11:67031883..67034489-chr11:67142861..67144652,2	K562	blood:
11	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
12	chr11:67085218..67086846-chr11:67141974..67144447,2	K562	blood:
13	chr11:67055479..67057173-chr11:67142777..67145596,2	K562	blood:
14	chr11:67078342..67081725-chr11:67139517..67143464,5	MCF-7	breast:
15	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
16	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:

Variant related genes	Relation type
ENSG00000256514	TF binding region
CLCF1	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000116396	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000175482	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:67141600-67143600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr11:67141800-67143600	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:67141800-67143600	Enhancers	Esophagus	oesophagus
5	chr11:67141800-67143600	Enhancers	Pancreas	Pancrea
6	chr11:67141800-67143800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:67141800-67143800	Bivalent Enhancer	Fetal Brain Female	brain
8	chr11:67141800-67144000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr11:67141800-67144200	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr11:67141800-67144200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:67141800-67152200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:67142000-67143600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:67142000-67143600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:67142000-67143600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:67142000-67143600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:67142000-67143800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:67142000-67144000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:67142000-67144000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:67142000-67144000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:67142000-67144000	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:67142000-67144000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr11:67142000-67144200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:67142000-67144200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr11:67142000-67144600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:67142000-67147600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:67142000-67147600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:67142000-67149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:67142200-67143600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:67142200-67143800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:67142200-67143800	Enhancers	Brain Anterior Caudate	brain
31	chr11:67142200-67144800	Weak transcription	Spleen	Spleen
32	chr11:67142200-67145000	Weak transcription	Gastric	stomach
33	chr11:67142400-67143600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:67142400-67143600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:67142400-67143600	Weak transcription	Right Atrium	heart
36	chr11:67142400-67143600	Enhancers	NHDF-Ad	bronchial
37	chr11:67142400-67143800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:67142400-67143800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
39	chr11:67142400-67144000	Enhancers	Stomach Smooth Muscle	stomach
40	chr11:67142400-67144000	Enhancers	NHLF	lung
41	chr11:67142400-67144600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:67142400-67145600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:67142400-67146400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:67142400-67146400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:67142400-67146800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:67142400-67147000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:67142600-67143800	Enhancers	HSMM	muscle
48	chr11:67142600-67143800	Enhancers	NH-A	brain
49	chr11:67142600-67144000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:67142600-67144000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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