Variant report

Variant	rs549074101
Chromosome Location	chr11:47208458-47208459
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	CEBPB	chr11:47208313-47208547	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr11:47207977-47208699	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:47204907-47209088	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:47206994-47208479	MCF10A-Er-Src	breast:	n/a	n/a
5	MAZ	chr11:47206739-47208699	Hela-S3	cervix:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
6	MAZ	chr11:47208345-47208593	GM12878	blood:	n/a	chr11:47208558-47208565
7	POLR2A	chr11:47208410-47208560	A549	lung:	n/a	n/a
8	POLR2A	chr11:47208353-47208631	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:47206354-47209173	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:47208313-47208619	SK-N-SH	brain:	n/a	n/a
11	ZNF143	chr11:47208319-47208582	K562	blood:	n/a	n/a
12	HEY1	chr11:47208032-47209653	HepG2	liver:	n/a	chr11:47208076-47208091 chr11:47208189-47208204
13	ELK1	chr11:47208375-47208548	Hela-S3	cervix:	n/a	n/a
14	TAF1	chr11:47207976-47209221	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF143	chr11:47208084-47208575	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:47208389-47208574	A549	lung:	n/a	n/a
17	POLR2A	chr11:47208027-47208765	HepG2	liver:	n/a	n/a
18	MYC	chr11:47207699-47208583	K562	blood:	n/a	chr11:47207774-47207784 chr11:47208558-47208565
19	POLR2A	chr11:47206648-47209488	Hela-S3	cervix:	n/a	n/a
20	SIN3A	chr11:47206728-47209436	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr11:47208159-47209137	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr11:47208324-47208614	Hela-S3	cervix:	n/a	n/a
23	MAX	chr11:47205478-47209283	HepG2	liver:	n/a	chr11:47207005-47207015 chr11:47208870-47208880 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
24	MYC	chr11:47207510-47208853	NB4	blood:	n/a	chr11:47207774-47207784 chr11:47208558-47208565
25	MAX	chr11:47208274-47209096	H1-hESC	embryonic stem cell:	n/a	chr11:47208870-47208880 chr11:47208558-47208565
26	SMC3	chr11:47206759-47208652	Hela-S3	cervix:	n/a	n/a
27	CTBP2	chr11:47208197-47209142	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:47207642-47208766	K562	blood:	n/a	n/a
29	TBP	chr11:47208341-47208748	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:47207962-47209079	PANC-1	pancreas:	n/a	n/a
31	EP300	chr11:47207858-47210318	SK-N-SH	brain:	n/a	chr11:47208078-47208094 chr11:47208901-47208917
32	POLR2A	chr11:47206762-47209024	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr11:47208273-47208628	K562	blood:	n/a	n/a
34	POLR2A	chr11:47208394-47208553	SK-N-SH	brain:	n/a	n/a
35	E2F6	chr11:47207822-47208934	A549	lung:	n/a	chr11:47207859-47207869
36	POLR2A	chr11:47207711-47208515	MCF10A-Er-Src	breast:	n/a	n/a
37	RFX5	chr11:47208340-47208533	HepG2	liver:	n/a	n/a
38	PRDM1	chr11:47208457-47208707	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:47206717-47208765	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr11:47208377-47208707	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr11:47208417-47208839	H1-hESC	embryonic stem cell:	n/a	chr11:47208558-47208565
42	CEBPD	chr11:47208385-47208605	HepG2	liver:	n/a	n/a
43	HDAC2	chr11:47208352-47209214	HepG2	liver:	n/a	n/a
44	MYBL2	chr11:47208112-47208641	HepG2	liver:	n/a	n/a
45	MAX	chr11:47208374-47208642	K562	blood:	n/a	chr11:47208558-47208565
46	POLR2A	chr11:47208427-47208557	A549	lung:	n/a	n/a
47	MAX	chr11:47206922-47208468	ECC-1	luminal epithelium:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
48	POLR2A	chr11:47207888-47209134	HepG2	liver:	n/a	n/a
49	RCOR1	chr11:47208043-47208642	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:47207711-47208947	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47207085..47210178-chr11:47288214..47292056,4	MCF-7	breast:
2	chr11:47205835..47208468-chr11:47280225..47282817,2	MCF-7	breast:
3	chr11:47205640..47208812-chr11:47225906..47229370,3	MCF-7	breast:
4	chr11:47206745..47208837-chr11:47280102..47282885,2	K562	blood:
5	chr11:47202119..47205492-chr11:47206060..47209673,5	K562	blood:
6	chr11:47205635..47209843-chr11:47268961..47271979,7	MCF-7	breast:
7	chr11:47208173..47208692-chr11:47290493..47291378,2	Hela-S3	cervix:
8	chr11:47205217..47215436-chr11:47233934..47241095,26	MCF-7	breast:
9	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
10	chr11:47205689..47216568-chr11:47232414..47239487,27	MCF-7	breast:
11	chr11:47205996..47209414-chr11:47263017..47267262,4	MCF-7	breast:
12	chr11:47208035..47210761-chr11:47215071..47216625,2	K562	blood:
13	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:
14	chr11:47207092..47208885-chr11:47420633..47423542,2	K562	blood:
15	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
16	chr11:47205341..47210329-chr11:47212095..47213798,5	MCF-7	breast:
17	chr11:47208178..47210711-chr11:47292129..47294410,2	K562	blood:
18	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
19	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000266540	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000256746	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv897324	chr11:47193566-47212032	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	esv3375306	chr11:47206601-47209149	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47206000-47209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:47206000-47210000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr11:47206200-47209000	Active TSS	Brain Substantia Nigra	brain
4	chr11:47206200-47209000	Active TSS	Gastric	stomach
5	chr11:47206200-47209400	Active TSS	Psoas Muscle	Psoas
6	chr11:47206400-47209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:47206400-47209400	Active TSS	Colon Smooth Muscle	Colon
8	chr11:47206400-47209600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:47206600-47209200	Active TSS	Aorta	Aorta
10	chr11:47206600-47209600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:47206800-47208600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:47206800-47208600	Active TSS	A549	lung
13	chr11:47206800-47209000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:47206800-47209200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr11:47206800-47209200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:47206800-47209200	Active TSS	Fetal Kidney	kidney
17	chr11:47206800-47209200	Active TSS	Rectal Smooth Muscle	rectum
18	chr11:47206800-47209400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr11:47206800-47209400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:47207000-47208800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:47207000-47209000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47207000-47209200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:47207000-47209200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:47207000-47209200	Active TSS	Esophagus	oesophagus
25	chr11:47207000-47209200	Active TSS	Ovary	ovary
26	chr11:47207000-47209400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:47207200-47209200	Flanking Bivalent TSS/Enh	Thymus	Thymus
28	chr11:47207200-47209200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr11:47207200-47209400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:47207200-47209400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:47207400-47209600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:47207600-47209000	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:47207800-47208600	Flanking Active TSS	Colonic Mucosa	Colon
34	chr11:47207800-47209000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr11:47208000-47208600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:47208000-47208600	Flanking Active TSS	Placenta	Placenta
37	chr11:47208000-47208600	Bivalent Enhancer	Fetal Thymus	thymus
38	chr11:47208000-47208600	Flanking Bivalent TSS/Enh	Dnd41	blood
39	chr11:47208000-47209000	Enhancers	Spleen	Spleen
40	chr11:47208000-47209200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
41	chr11:47208000-47209200	Flanking Active TSS	HMEC	breast
42	chr11:47208000-47209400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:47208200-47208600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:47208200-47208600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:47208200-47208600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:47208200-47208600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:47208200-47208600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
48	chr11:47208200-47208600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:47208200-47208600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:47208200-47208600	Flanking Active TSS	Brain Hippocampus Middle	brain

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