Variant report

Variant	rs552787242
Chromosome Location	chr11:63705561-63705562
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	GTF2F1	chr11:63705557-63706141	Hela-S3	cervix:	n/a	n/a
2	EBF1	chr11:63705493-63705972	GM12878	blood:	n/a	n/a
3	SP1	chr11:63705422-63707022	A549	lung:	n/a	chr11:63706259-63706268 chr11:63706258-63706270 chr11:63706260-63706269 chr11:63706782-63706791 chr11:63706258-63706270 chr11:63706781-63706790 chr11:63706781-63706791 chr11:63706424-63706433 chr11:63706780-63706792 chr11:63706308-63706322 chr11:63706781-63706791 chr11:63706890-63706903 chr11:63706780-63706792 chr11:63706781-63706795 chr11:63706663-63706677
4	USF2	chr11:63705507-63707026	Hela-S3	cervix:	n/a	chr11:63706681-63706690 chr11:63706653-63706666 chr11:63705687-63705700 chr11:63706655-63706664 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63706679-63706692 chr11:63706656-63706665 chr11:63706681-63706690 chr11:63706682-63706691 chr11:63705689-63705698 chr11:63706654-63706665 chr11:63706675-63706696 chr11:63706655-63706664
5	BHLHE40	chr11:63705506-63705970	A549	lung:	n/a	chr11:63705687-63705700 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63705689-63705698
6	ELF1	chr11:63705384-63705922	GM12878	blood:	n/a	n/a
7	MAX	chr11:63705486-63707262	Hela-S3	cervix:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706676-63706695 chr11:63706257-63706267 chr11:63706681-63706690 chr11:63706229-63706238
8	CTCF	chr11:63705420-63705570	RPTEC	kidney:	n/a	n/a
9	MAX	chr11:63705548-63706766	H1-hESC	embryonic stem cell:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706676-63706695 chr11:63706257-63706267 chr11:63706681-63706690 chr11:63706229-63706238
10	ELF1	chr11:63705429-63705797	HepG2	liver:	n/a	n/a
11	USF2	chr11:63705532-63705880	H1-hESC	embryonic stem cell:	n/a	chr11:63705687-63705700 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63705689-63705698
12	CHD2	chr11:63705548-63706589	Hela-S3	cervix:	n/a	n/a
13	ELF1	chr11:63705478-63706693	GM12878	blood:	n/a	n/a
14	ELF1	chr11:63705528-63706946	K562	blood:	n/a	n/a
15	EP300	chr11:63705425-63707151	ECC-1	luminal epithelium:	n/a	chr11:63706793-63706802 chr11:63706172-63706188 chr11:63705976-63705985 chr11:63706353-63706369 chr11:63706220-63706229 chr11:63706398-63706407
16	BCL3	chr11:63705482-63706126	A549	lung:	n/a	n/a
17	CTCF	chr11:63705560-63705710	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr11:63705560-63705710	GM12864	blood:	n/a	n/a
19	MAX	chr11:63705405-63707283	A549	lung:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706676-63706695 chr11:63706257-63706267 chr11:63706681-63706690 chr11:63706229-63706238
20	CTCF	chr11:63705520-63705670	GM12864	blood:	n/a	n/a
21	USF1	chr11:63705409-63707108	HCT-116	colon:	n/a	chr11:63705687-63705698 chr11:63706681-63706690 chr11:63706653-63706666 chr11:63705687-63705700 chr11:63706655-63706664 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63706679-63706692 chr11:63706656-63706665 chr11:63706681-63706690 chr11:63706682-63706691 chr11:63705689-63705698 chr11:63706654-63706665 chr11:63706675-63706696 chr11:63706655-63706664
22	TBP	chr11:63705544-63706199	Hela-S3	cervix:	n/a	n/a
23	EP300	chr11:63705418-63706518	A549	lung:	n/a	chr11:63706172-63706188 chr11:63705976-63705985 chr11:63706353-63706369 chr11:63706220-63706229 chr11:63706398-63706407
24	CTCF	chr11:63705480-63705630	GM12871	blood:	n/a	n/a
25	MYC	chr11:63705560-63705623	MCF10A-Er-Src	breast:	n/a	n/a
26	RAD21	chr11:63705466-63706323	Hela-S3	cervix:	n/a	chr11:63706141-63706154
27	USF1	chr11:63705462-63705972	K562	blood:	n/a	chr11:63705687-63705698 chr11:63705687-63705700 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63705689-63705698
28	USF1	chr11:63705520-63705874	GM12878	blood:	n/a	chr11:63705687-63705698 chr11:63705687-63705700 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63705689-63705698
29	CTCF	chr11:63705560-63705710	GM12874	blood:	n/a	n/a
30	ELK4	chr11:63705542-63706257	Hela-S3	cervix:	n/a	chr11:63706022-63706033
31	CTCF	chr11:63705440-63705590	GM12870	blood:	n/a	n/a
32	TAF1	chr11:63705422-63706775	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr11:63705480-63705630	HepG2	liver:	n/a	n/a
34	GABPA	chr11:63705522-63706397	A549	lung:	n/a	chr11:63705655-63705669
35	ELF1	chr11:63705433-63706171	A549	lung:	n/a	n/a
36	MXI1	chr11:63705340-63707417	SK-N-SH	brain:	n/a	chr11:63706227-63706242 chr11:63706700-63706709 chr11:63706682-63706691 chr11:63706229-63706244 chr11:63706656-63706665
37	EGR1	chr11:63705408-63706625	HCT-116	colon:	n/a	chr11:63706254-63706267 chr11:63706253-63706268 chr11:63706429-63706439 chr11:63706431-63706441 chr11:63706426-63706436 chr11:63706396-63706405 chr11:63706430-63706440 chr11:63706453-63706462 chr11:63706254-63706267 chr11:63706255-63706269 chr11:63706432-63706442
38	MAX	chr11:63705555-63706691	SK-N-SH	brain:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706257-63706267 chr11:63706681-63706690 chr11:63706229-63706238
39	REST	chr11:63705451-63706648	A549	lung:	n/a	chr11:63706199-63706212 chr11:63706247-63706260
40	TFAP2A	chr11:63705426-63706393	Hela-S3	cervix:	n/a	chr11:63705664-63705678
41	GABPA	chr11:63705492-63707127	K562	blood:	n/a	chr11:63706452-63706466 chr11:63706395-63706409 chr11:63706452-63706461 chr11:63706454-63706463 chr11:63705655-63705669 chr11:63706452-63706463 chr11:63706392-63706406
42	HA-E2F1	chr11:63705481-63706636	MCF-7	breast:	n/a	chr11:63706398-63706407 chr11:63706081-63706090 chr11:63706409-63706423 chr11:63706453-63706462 chr11:63706396-63706405 chr11:63706217-63706227 chr11:63706259-63706268
43	HA-E2F1	chr11:63705556-63706632	Hela-S3	cervix:	n/a	chr11:63706398-63706407 chr11:63706081-63706090 chr11:63706409-63706423 chr11:63706453-63706462 chr11:63706396-63706405 chr11:63706217-63706227 chr11:63706259-63706268
44	MAX	chr11:63705350-63707451	A549	lung:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706676-63706695 chr11:63706257-63706267 chr11:63707301-63707311 chr11:63706681-63706690 chr11:63706229-63706238
45	USF1	chr11:63705475-63706055	A549	lung:	n/a	chr11:63705687-63705698 chr11:63705687-63705700 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63705689-63705698
46	CTCF	chr11:63705480-63705630	HRE	kidney:	n/a	n/a
47	REST	chr11:63705506-63706401	HL-60	blood:	n/a	chr11:63706199-63706212 chr11:63706247-63706260
48	USF1	chr11:63705479-63705896	SK-N-SH	brain:	n/a	chr11:63705687-63705698 chr11:63705687-63705700 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63705689-63705698
49	CTCF	chr11:63705480-63705630	Caco-2	colon:	n/a	n/a
50	SP1	chr11:63705378-63706828	A549	lung:	n/a	chr11:63706259-63706268 chr11:63706258-63706270 chr11:63706260-63706269 chr11:63706782-63706791 chr11:63706258-63706270 chr11:63706781-63706790 chr11:63706781-63706791 chr11:63706424-63706433 chr11:63706780-63706792 chr11:63706308-63706322 chr11:63706781-63706791 chr11:63706780-63706792 chr11:63706781-63706795 chr11:63706663-63706677

No.	Distal block	Cell Line	Cell type
1	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
2	chr11:62606149..62609197-chr11:63704613..63706388,3	MCF-7	breast:
3	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
4	chr11:63704733..63706426-chr11:63742021..63745098,3	K562	blood:
5	chr11:63655390..63658583-chr11:63705235..63708313,3	K562	blood:
6	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
7	chr11:63703471..63707661-chr11:63741980..63743610,3	K562	blood:
8	chr11:63704888..63707484-chr11:63951709..63953319,2	MCF-7	breast:
9	chr11:63697160..63699564-chr11:63703957..63705699,2	MCF-7	breast:
10	chr1:43312160..43312711-chr11:63705230..63706062,2	Hela-S3	cervix:
11	chr11:63705424..63708366-chr11:63719461..63721078,2	MCF-7	breast:
12	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
13	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:

Variant related genes	Relation type
NAA40	TF binding region
ENSG00000110583	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000164011	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000167771	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
9	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	esv3321721	chr11:63705201-63707749	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63697000-63705600	Weak transcription	Right Atrium	heart
2	chr11:63698800-63705600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:63698800-63705600	Weak transcription	Esophagus	oesophagus
4	chr11:63699000-63705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:63699600-63705600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:63699800-63705600	Weak transcription	Fetal Lung	lung
7	chr11:63699800-63705600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:63701400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:63701400-63705600	Weak transcription	Left Ventricle	heart
10	chr11:63702200-63705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:63702200-63705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:63702200-63705600	Weak transcription	Adipose Nuclei	Adipose
13	chr11:63702400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:63702400-63705600	Weak transcription	Osteobl	bone
15	chr11:63705000-63705600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:63705000-63705600	Weak transcription	Fetal Brain Male	brain
17	chr11:63705000-63705600	Enhancers	Pancreas	Pancrea
18	chr11:63705000-63706000	Flanking Active TSS	Hela-S3	cervix
19	chr11:63705000-63707400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:63705200-63705600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:63705200-63705600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:63705200-63705600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:63705200-63705600	Enhancers	Fetal Kidney	kidney
24	chr11:63705200-63706000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:63705200-63706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:63705200-63706200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:63705200-63707200	Active TSS	Colonic Mucosa	Colon
28	chr11:63705200-63707600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:63705200-63707600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr11:63705200-63707600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:63705200-63707600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:63705200-63708400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:63705400-63705600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:63705400-63705600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:63705400-63705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:63705400-63705600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:63705400-63705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:63705400-63705600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:63705400-63705600	Active TSS	Primary B cells from cord blood	blood
40	chr11:63705400-63705600	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:63705400-63705600	Active TSS	Primary T cells from cord blood	blood
42	chr11:63705400-63705600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:63705400-63705600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:63705400-63705600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:63705400-63705600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:63705400-63705600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:63705400-63705600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:63705400-63705600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:63705400-63705600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:63705400-63705600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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