Variant report

Variant	rs143909481
Chromosome Location	chr11:63705632-63705633
allele	A/G
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	POLR2A	chr11:63705613-63706715	K562	blood:	n/a	n/a
4	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
5	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
6	CREB1	chr11:63705599-63706800	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr11:63705582-63705771	K562	blood:	n/a	n/a
8	BHLHE40	chr11:63705506-63705970	A549	lung:	n/a	chr11:63705687-63705700 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63705689-63705698
9	ELF1	chr11:63705384-63705922	GM12878	blood:	n/a	n/a
10	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
11	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
12	ELF1	chr11:63705429-63705797	HepG2	liver:	n/a	n/a
13	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
14	RCOR1	chr11:63705573-63706889	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr11:63705548-63706589	Hela-S3	cervix:	n/a	n/a
16	MAX	chr11:63705570-63706695	SK-N-SH	brain:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706676-63706695 chr11:63706257-63706267 chr11:63706681-63706690 chr11:63706229-63706238
17	ELF1	chr11:63705478-63706693	GM12878	blood:	n/a	n/a
18	ELF1	chr11:63705528-63706946	K562	blood:	n/a	n/a
19	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
20	BCL3	chr11:63705482-63706126	A549	lung:	n/a	n/a
21	CTCF	chr11:63705560-63705710	WERI-Rb-1	eye:	n/a	n/a
22	RELA	chr11:63705591-63706716	GM15510	blood:	n/a	n/a
23	CTCF	chr11:63705560-63705710	GM12864	blood:	n/a	n/a
24	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
25	CTCF	chr11:63705520-63705670	GM12864	blood:	n/a	n/a
26	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
27	TBP	chr11:63705544-63706199	Hela-S3	cervix:	n/a	n/a
28	E2F6	chr11:63705628-63706804	A549	lung:	n/a	chr11:63706398-63706407 chr11:63706081-63706090 chr11:63706409-63706423 chr11:63706453-63706462 chr11:63706396-63706405 chr11:63706004-63706015 chr11:63706217-63706227 chr11:63706259-63706268
29	CTCF	chr11:63705580-63705730	GM06990	blood:	n/a	n/a
30	EP300	chr11:63705418-63706518	A549	lung:	n/a	chr11:63706172-63706188 chr11:63705976-63705985 chr11:63706353-63706369 chr11:63706220-63706229 chr11:63706398-63706407
31	TCF7L2	chr11:63705622-63706762	HCT-116	colon:	n/a	chr11:63706634-63706644 chr11:63706633-63706642
32	TBL1XR1	chr11:63705601-63706897	GM12878	blood:	n/a	n/a
33	RAD21	chr11:63705466-63706323	Hela-S3	cervix:	n/a	chr11:63706141-63706154
34	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
35	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
36	CTCF	chr11:63705560-63705710	GM12874	blood:	n/a	n/a
37	E2F1	chr11:63705614-63706606	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
38	POLR2A	chr11:63705603-63706702	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:63705585-63706706	K562	blood:	n/a	n/a
40	ELK4	chr11:63705542-63706257	Hela-S3	cervix:	n/a	chr11:63706022-63706033
41	USF2	chr11:63705615-63705868	HepG2	liver:	n/a	chr11:63705687-63705700 chr11:63705683-63705704 chr11:63705689-63705698 chr11:63705688-63705697 chr11:63705689-63705698
42	TAF1	chr11:63705422-63706775	ECC-1	luminal epithelium:	n/a	n/a
43	GABPA	chr11:63705522-63706397	A549	lung:	n/a	chr11:63705655-63705669
44	CTCF	chr11:63705631-63705636	K562	blood:	n/a	n/a
45	ELF1	chr11:63705433-63706171	A549	lung:	n/a	n/a
46	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
47	MAZ	chr11:63705568-63707278	GM12878	blood:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706676-63706695 chr11:63706257-63706267 chr11:63706681-63706690 chr11:63706229-63706238
48	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
49	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
50	CTCF	chr11:63705620-63705770	GM12872	blood:	n/a	n/a

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
ENSG00000133316	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000164011	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000168439	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63705000-63706000	Flanking Active TSS	Hela-S3	cervix
2	chr11:63705000-63707400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:63705200-63706000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:63705200-63706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:63705200-63706200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:63705200-63707200	Active TSS	Colonic Mucosa	Colon
7	chr11:63705200-63707600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:63705200-63707600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:63705200-63707600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:63705200-63707600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:63705200-63708400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:63705400-63705800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:63705400-63705800	Flanking Active TSS	A549	lung
14	chr11:63705400-63706000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:63705400-63706000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:63705400-63706000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr11:63705400-63706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:63705400-63706000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:63705400-63706000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr11:63705400-63706000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr11:63705400-63706000	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr11:63705400-63706000	Flanking Active TSS	GM12878-XiMat	blood
23	chr11:63705400-63706000	Flanking Active TSS	HMEC	breast
24	chr11:63705400-63706000	Flanking Active TSS	K562	blood
25	chr11:63705400-63706000	Flanking Active TSS	NHEK	skin
26	chr11:63705400-63706200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:63705400-63706200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr11:63705400-63706200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr11:63705400-63706200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:63705400-63706200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:63705400-63707000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr11:63705400-63707200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr11:63705400-63707600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr11:63705400-63707600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:63705400-63707600	Active TSS	Fetal Intestine Large	intestine
36	chr11:63705400-63707800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:63705400-63708000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:63705400-63708200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:63705600-63705800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:63705600-63705800	Enhancers	Adipose Nuclei	Adipose
41	chr11:63705600-63705800	Enhancers	Aorta	Aorta
42	chr11:63705600-63705800	Enhancers	Esophagus	oesophagus
43	chr11:63705600-63705800	Enhancers	Fetal Brain Male	brain
44	chr11:63705600-63705800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:63705600-63705800	Flanking Active TSS	Right Atrium	heart
46	chr11:63705600-63705800	Enhancers	Spleen	Spleen
47	chr11:63705600-63705800	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr11:63705600-63705800	Flanking Active TSS	NHDF-Ad	bronchial
49	chr11:63705600-63706000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:63705600-63706000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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