Variant report

Variant	rs374574752
Chromosome Location	chr11:63706384-63706385
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	MXI1	chr11:63705635-63706675	IMR90	lung:	n/a	chr11:63706227-63706242 chr11:63706229-63706244 chr11:63706656-63706665
2	POLR2A	chr11:63705613-63706715	K562	blood:	n/a	n/a
3	NRF1	chr11:63706169-63706648	H1-hESC	embryonic stem cell:	n/a	chr11:63706452-63706466 chr11:63706394-63706405 chr11:63706395-63706409 chr11:63706362-63706373 chr11:63706452-63706461 chr11:63706454-63706463 chr11:63706452-63706463 chr11:63706392-63706406
4	PML	chr11:63705660-63706845	GM12878	blood:	n/a	n/a
5	ATF2	chr11:63706043-63706706	GM12878	blood:	n/a	n/a
6	STAT1	chr11:63705923-63706562	GM12878	blood:	n/a	chr11:63705978-63705986 chr11:63706430-63706442 chr11:63706425-63706437 chr11:63706429-63706441
7	SRF	chr11:63705994-63706404	K562	blood:	n/a	chr11:63706257-63706267
8	REST	chr11:63705986-63706486	ECC-1	luminal epithelium:	n/a	chr11:63706199-63706212 chr11:63706247-63706260
9	CBX3	chr11:63705760-63706690	K562	blood:	n/a	n/a
10	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
11	SRF	chr11:63705955-63706576	ECC-1	luminal epithelium:	n/a	chr11:63706257-63706267
12	POLR2A	chr11:63705923-63706784	MCF-7	breast:	n/a	n/a
13	IRF1	chr11:63705682-63706678	K562	blood:	n/a	chr11:63706258-63706272
14	CREB1	chr11:63705881-63706573	ECC-1	luminal epithelium:	n/a	n/a
15	EGR1	chr11:63706114-63706398	GM12878	blood:	n/a	chr11:63706254-63706267 chr11:63706253-63706268 chr11:63706254-63706267 chr11:63706255-63706269
16	CHD2	chr11:63706087-63706576	K562	blood:	n/a	n/a
17	ATF3	chr11:63706147-63706420	GM12878	blood:	n/a	chr11:63706259-63706268
18	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
19	CREB1	chr11:63705599-63706800	HepG2	liver:	n/a	n/a
20	UBTF	chr11:63705983-63706589	K562	blood:	n/a	n/a
21	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
22	CTCF	chr11:63706240-63706390	HEK293	kidney:	n/a	chr11:63706311-63706324 chr11:63706309-63706327
23	TCF12	chr11:63705775-63706401	A549	lung:	n/a	n/a
24	ZBTB7A	chr11:63706049-63706438	HepG2	liver:	n/a	chr11:63706346-63706355
25	CHD2	chr11:63706170-63706589	HepG2	liver:	n/a	n/a
26	CTCF	chr11:63705791-63706493	K562	blood:	n/a	chr11:63706311-63706324 chr11:63706309-63706327
27	EP300	chr11:63705685-63706503	A549	lung:	n/a	chr11:63706172-63706188 chr11:63705976-63705985 chr11:63706353-63706369 chr11:63706220-63706229 chr11:63706398-63706407
28	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
29	SRF	chr11:63705763-63706613	MCF-7	breast:	n/a	chr11:63706257-63706267
30	CHD2	chr11:63705898-63706690	GM12878	blood:	n/a	n/a
31	EGR1	chr11:63706073-63706395	K562	blood:	n/a	chr11:63706254-63706267 chr11:63706253-63706268 chr11:63706254-63706267 chr11:63706255-63706269
32	SRF	chr11:63706141-63706461	GM12878	blood:	n/a	chr11:63706257-63706267
33	RCOR1	chr11:63705573-63706889	Hela-S3	cervix:	n/a	n/a
34	JUND	chr11:63705678-63706477	K562	blood:	n/a	chr11:63706426-63706435 chr11:63706431-63706440 chr11:63706429-63706438 chr11:63706433-63706442 chr11:63706430-63706439 chr11:63706432-63706441 chr11:63706427-63706436
35	USF2	chr11:63706145-63707019	H1-hESC	embryonic stem cell:	n/a	chr11:63706681-63706690 chr11:63706653-63706666 chr11:63706655-63706664 chr11:63706679-63706692 chr11:63706656-63706665 chr11:63706681-63706690 chr11:63706682-63706691 chr11:63706654-63706665 chr11:63706675-63706696 chr11:63706655-63706664
36	ATF3	chr11:63705992-63706851	HepG2	liver:	n/a	chr11:63706413-63706422 chr11:63706681-63706701 chr11:63706681-63706690 chr11:63706259-63706268 chr11:63706655-63706675 chr11:63706655-63706664
37	FOXP2	chr11:63705995-63706419	SK-N-MC	brain:	n/a	n/a
38	CHD2	chr11:63705548-63706589	Hela-S3	cervix:	n/a	n/a
39	USF1	chr11:63706311-63706919	A549	lung:	n/a	chr11:63706681-63706690 chr11:63706653-63706666 chr11:63706655-63706664 chr11:63706679-63706692 chr11:63706656-63706665 chr11:63706681-63706690 chr11:63706682-63706691 chr11:63706654-63706665 chr11:63706675-63706696 chr11:63706655-63706664
40	MYC	chr11:63706068-63706421	MCF-7	breast:	n/a	chr11:63706257-63706267 chr11:63706229-63706238
41	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
42	ELF1	chr11:63705478-63706693	GM12878	blood:	n/a	n/a
43	YY1	chr11:63706140-63706448	HCT-116	colon:	n/a	chr11:63706426-63706435 chr11:63706145-63706156
44	CREB1	chr11:63705891-63706744	K562	blood:	n/a	n/a
45	ELF1	chr11:63705528-63706946	K562	blood:	n/a	n/a
46	POLR2A	chr11:63705867-63706660	SK-N-SH	brain:	n/a	n/a
47	REST	chr11:63705960-63706442	PANC-1	pancreas:	n/a	chr11:63706199-63706212 chr11:63706247-63706260
48	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
49	JUN	chr11:63705881-63706431	K562	blood:	n/a	n/a
50	MAX	chr11:63705683-63707046	GM12878	blood:	n/a	chr11:63706655-63706664 chr11:63706427-63706437 chr11:63706676-63706695 chr11:63706257-63706267 chr11:63706681-63706690 chr11:63706229-63706238

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	chr11:63601389..63603149-chr11:63706339..63708895,2	K562	blood:
8	chr11:63703471..63707661-chr11:63741980..63743610,3	K562	blood:
9	chr11:63704888..63707484-chr11:63951709..63953319,2	MCF-7	breast:
10	chr11:63706023..63706544-chr2:197036114..197036681,2	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
ENSG00000072518	Chromatin interaction
ENSG00000256280	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000081320	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000256100	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63705000-63707400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:63705200-63707200	Active TSS	Colonic Mucosa	Colon
3	chr11:63705200-63707600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:63705200-63707600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:63705200-63707600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:63705200-63707600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:63705200-63708400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:63705400-63707000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:63705400-63707200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:63705400-63707600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:63705400-63707600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:63705400-63707600	Active TSS	Fetal Intestine Large	intestine
13	chr11:63705400-63707800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:63705400-63708000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:63705400-63708200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:63705600-63706800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:63705600-63706800	Active TSS	Fetal Brain Female	brain
18	chr11:63705600-63706800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:63705600-63706800	Active TSS	Stomach Mucosa	stomach
20	chr11:63705600-63707000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:63705600-63707000	Active TSS	Brain Germinal Matrix	brain
22	chr11:63705600-63707000	Active TSS	Gastric	stomach
23	chr11:63705600-63707200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:63705600-63707200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:63705600-63707200	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:63705600-63707400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:63705600-63707400	Active TSS	Psoas Muscle	Psoas
28	chr11:63705600-63707600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:63705600-63707600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:63705600-63707600	Active TSS	Fetal Kidney	kidney
31	chr11:63705800-63707000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:63705800-63707000	Active TSS	Esophagus	oesophagus
33	chr11:63705800-63707000	Active TSS	Placenta Amnion	Placenta Amnion
34	chr11:63705800-63707000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr11:63705800-63707200	Active TSS	Ovary	ovary
36	chr11:63705800-63707200	Active TSS	Small Intestine	intestine
37	chr11:63705800-63707400	Active TSS	Aorta	Aorta
38	chr11:63705800-63707400	Active TSS	Colon Smooth Muscle	Colon
39	chr11:63705800-63707400	Active TSS	Lung	lung
40	chr11:63705800-63707400	Active TSS	NHDF-Ad	bronchial
41	chr11:63705800-63707600	Active TSS	A549	lung
42	chr11:63706000-63706400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:63706000-63706400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:63706000-63706600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr11:63706000-63706600	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr11:63706000-63706600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:63706000-63706800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:63706000-63706800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:63706000-63706800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:63706000-63706800	Active TSS	Primary monocytes fromperipheralblood	blood

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