Variant report

Variant	rs577697291
Chromosome Location	chr11:47208306-47208307
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	RCOR1	chr11:47207977-47208699	HepG2	liver:	n/a	n/a
2	CTCF	chr11:47208200-47208350	HRE	kidney:	n/a	n/a
3	CTCF	chr11:47208180-47208330	HCM	heart:	n/a	n/a
4	POLR2A	chr11:47204907-47209088	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47206994-47208479	MCF10A-Er-Src	breast:	n/a	n/a
6	SIN3AK20	chr11:47206948-47208390	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:47207027-47208413	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr11:47208300-47208450	HPAF	blood vessel:	n/a	n/a
9	MAZ	chr11:47206739-47208699	Hela-S3	cervix:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
10	POLR2A	chr11:47206354-47209173	HepG2	liver:	n/a	n/a
11	HEY1	chr11:47208032-47209653	HepG2	liver:	n/a	chr11:47208076-47208091 chr11:47208189-47208204
12	TAF1	chr11:47207976-47209221	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF143	chr11:47208084-47208575	Hela-S3	cervix:	n/a	n/a
14	JUND	chr11:47207877-47208312	A549	lung:	n/a	chr11:47207894-47207902
15	POLR2A	chr11:47208027-47208765	HepG2	liver:	n/a	n/a
16	MYC	chr11:47207699-47208583	K562	blood:	n/a	chr11:47207774-47207784 chr11:47208558-47208565
17	POLR2A	chr11:47206648-47209488	Hela-S3	cervix:	n/a	n/a
18	SIN3A	chr11:47206728-47209436	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBP	chr11:47208159-47209137	H1-hESC	embryonic stem cell:	n/a	n/a
20	UBTF	chr11:47207515-47208439	K562	blood:	n/a	n/a
21	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
22	MYC	chr11:47207510-47208853	NB4	blood:	n/a	chr11:47207774-47207784 chr11:47208558-47208565
23	MAX	chr11:47208274-47209096	H1-hESC	embryonic stem cell:	n/a	chr11:47208870-47208880 chr11:47208558-47208565
24	SMC3	chr11:47206759-47208652	Hela-S3	cervix:	n/a	n/a
25	CTBP2	chr11:47208197-47209142	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:47207642-47208766	K562	blood:	n/a	n/a
27	POLR2A	chr11:47207962-47209079	PANC-1	pancreas:	n/a	n/a
28	EP300	chr11:47207858-47210318	SK-N-SH	brain:	n/a	chr11:47208078-47208094 chr11:47208901-47208917
29	MAX	chr11:47206944-47208373	ECC-1	luminal epithelium:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
30	POLR2A	chr11:47206762-47209024	Hela-S3	cervix:	n/a	n/a
31	RCOR1	chr11:47208273-47208628	K562	blood:	n/a	n/a
32	E2F6	chr11:47207822-47208934	A549	lung:	n/a	chr11:47207859-47207869
33	POLR2A	chr11:47207711-47208515	MCF10A-Er-Src	breast:	n/a	n/a
34	JUND	chr11:47208219-47208318	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:47206717-47208765	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:47207109-47208325	A549	lung:	n/a	n/a
37	MYBL2	chr11:47208112-47208641	HepG2	liver:	n/a	n/a
38	BHLHE40	chr11:47208216-47208411	K562	blood:	n/a	n/a
39	MAX	chr11:47206922-47208468	ECC-1	luminal epithelium:	n/a	chr11:47207005-47207015 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784
40	POLR2A	chr11:47207888-47209134	HepG2	liver:	n/a	n/a
41	RCOR1	chr11:47208043-47208642	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:47207711-47208947	SK-N-MC	brain:	n/a	n/a
43	MAX	chr11:47207926-47208756	SK-N-SH	brain:	n/a	chr11:47208558-47208565
44	MAZ	chr11:47206259-47209176	HepG2	liver:	n/a	chr11:47207005-47207015 chr11:47208870-47208880 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
45	POLR2A	chr11:47207622-47209060	NB4	blood:	n/a	n/a
46	MAX	chr11:47206741-47208902	Hela-S3	cervix:	n/a	chr11:47207005-47207015 chr11:47208870-47208880 chr11:47207105-47207115 chr11:47207475-47207485 chr11:47207774-47207784 chr11:47208558-47208565
47	CHD2	chr11:47208210-47208486	K562	blood:	n/a	n/a
48	MAX	chr11:47207725-47208453	MCF-7	breast:	n/a	chr11:47207774-47207784
49	MAX	chr11:47208020-47209163	H1-hESC	embryonic stem cell:	n/a	chr11:47208870-47208880 chr11:47208558-47208565
50	E2F6	chr11:47207309-47208674	K562	blood:	n/a	chr11:47207859-47207869

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
ENSG00000256746	Chromatin interaction
ENSG00000243802	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000266540	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165912	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:125 , 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	chr11:47206200-47208400	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr11:47206200-47209000	Active TSS	Brain Substantia Nigra	brain
5	chr11:47206200-47209000	Active TSS	Gastric	stomach
6	chr11:47206200-47209400	Active TSS	Psoas Muscle	Psoas
7	chr11:47206400-47209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:47206400-47209400	Active TSS	Colon Smooth Muscle	Colon
9	chr11:47206400-47209600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:47206600-47209200	Active TSS	Aorta	Aorta
11	chr11:47206600-47209600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:47206800-47208400	Active TSS	NHDF-Ad	bronchial
13	chr11:47206800-47208600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:47206800-47208600	Active TSS	A549	lung
15	chr11:47206800-47209000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:47206800-47209200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:47206800-47209200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:47206800-47209200	Active TSS	Fetal Kidney	kidney
19	chr11:47206800-47209200	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:47206800-47209400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:47206800-47209400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:47207000-47208400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:47207000-47208400	Active TSS	Brain Cingulate Gyrus	brain
24	chr11:47207000-47208800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:47207000-47209000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:47207000-47209200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:47207000-47209200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:47207000-47209200	Active TSS	Esophagus	oesophagus
29	chr11:47207000-47209200	Active TSS	Ovary	ovary
30	chr11:47207000-47209400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:47207200-47209200	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr11:47207200-47209200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr11:47207200-47209400	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr11:47207200-47209400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:47207400-47209600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:47207600-47208400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
37	chr11:47207600-47208400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:47207600-47209000	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:47207800-47208600	Flanking Active TSS	Colonic Mucosa	Colon
40	chr11:47207800-47209000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr11:47208000-47208400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:47208000-47208600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:47208000-47208600	Flanking Active TSS	Placenta	Placenta
44	chr11:47208000-47208600	Bivalent Enhancer	Fetal Thymus	thymus
45	chr11:47208000-47208600	Flanking Bivalent TSS/Enh	Dnd41	blood
46	chr11:47208000-47209000	Enhancers	Spleen	Spleen
47	chr11:47208000-47209200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr11:47208000-47209200	Flanking Active TSS	HMEC	breast
49	chr11:47208000-47209400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:47208200-47208400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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