Variant report

Variant	rs552218118
Chromosome Location	chr11:71933669-71933670
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	POLR2A	chr11:71933601-71936308	K562	blood:	n/a	n/a
2	JUND	chr11:71933523-71935397	K562	blood:	n/a	chr11:71934838-71934847
3	MAZ	chr11:71933467-71937004	K562	blood:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
4	RELA	chr11:71933619-71935345	GM12891	blood:	n/a	n/a
5	MAFK	chr11:71933556-71933754	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr11:71933600-71934181	K562	blood:	n/a	n/a
7	FOXA2	chr11:71933653-71933926	HepG2	liver:	n/a	n/a
8	BHLHE40	chr11:71933540-71933802	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:71933496-71937164	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:71933582-71937060	GM12891	blood:	n/a	n/a
11	FOXA1	chr11:71933580-71934311	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:71933570-71936946	Raji	blood:	n/a	n/a
13	RELA	chr11:71933550-71934662	GM15510	blood:	n/a	n/a
14	MAX	chr11:71933624-71933669	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:71933599-71937015	GM12878	blood:	n/a	n/a
16	MTA3	chr11:71933547-71934768	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:71933653-71937064	Hela-S3	cervix:	n/a	n/a
18	BHLHE40	chr11:71933635-71933803	K562	blood:	n/a	n/a
19	HCFC1	chr11:71932747-71937190	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:71933504-71937038	K562	blood:	n/a	n/a
21	SMARCB1	chr11:71933632-71937015	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr11:71933507-71933701	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:71933624-71937083	GM18505	blood:	n/a	n/a
24	RCOR1	chr11:71933273-71935391	K562	blood:	n/a	n/a
25	TAL1	chr11:71933574-71933790	K562	blood:	n/a	chr11:71933680-71933698
26	IRF1	chr11:71933581-71935241	K562	blood:	n/a	chr11:71934206-71934219 chr11:71934317-71934331 chr11:71934208-71934219 chr11:71934205-71934222 chr11:71934402-71934416 chr11:71934207-71934219
27	UBTF	chr11:71933623-71936204	K562	blood:	n/a	n/a
28	CCNT2	chr11:71933585-71935323	K562	blood:	n/a	chr11:71933680-71933700 chr11:71934318-71934327
29	POLR2A	chr11:71933652-71936238	K562	blood:	n/a	n/a
30	NR2F2	chr11:71933497-71935140	K562	blood:	n/a	n/a
31	EP300	chr11:71933417-71934762	K562	blood:	n/a	chr11:71934716-71934732 chr11:71934691-71934707 chr11:71934439-71934455
32	POLR2A	chr11:71933588-71937040	GM12892	blood:	n/a	n/a
33	SMARCC1	chr11:71933470-71934759	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71901535..71906562-chr11:71933469..71937383,8	MCF-7	breast:
2	chr11:71932379..71935171-chr11:72141438..72143643,2	K562	blood:
3	chr11:71928745..71931355-chr11:71933643..71936077,2	MCF-7	breast:
4	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:
5	chr11:71903106..71905888-chr11:71932566..71934811,2	K562	blood:
6	chr11:71928000..71929697-chr11:71932021..71933671,2	MCF-7	breast:
7	chr11:71933506..71936425-chr8:101962971..101964656,2	MCF-7	breast:
8	chr11:71929797..71931441-chr11:71932339..71934152,2	MCF-7	breast:
9	chr11:71926160..71927705-chr11:71931885..71934510,2	MCF-7	breast:
10	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
11	chr11:71749038..71754852-chr11:71933473..71937860,9	MCF-7	breast:
12	chr11:71933144..71936187-chr11:72142812..72145474,4	MCF-7	breast:
13	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
14	chr11:71705470..71708103-chr11:71933163..71935736,2	K562	blood:

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000165457	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000110195	Chromatin interaction
ENSG00000164924	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3356829	chr11:71933329-71936177	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	esv3333139	chr11:71933354-71937252	Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71931600-71933800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:71932200-71933800	Enhancers	Placenta	Placenta
3	chr11:71932400-71934000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:71932400-71934200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:71932600-71933800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:71932600-71933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:71932600-71933800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:71932800-71933800	Enhancers	Fetal Intestine Large	intestine
9	chr11:71932800-71933800	Enhancers	Fetal Stomach	stomach
10	chr11:71932800-71934000	Flanking Active TSS	GM12878-XiMat	blood
11	chr11:71932800-71934200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:71933000-71933800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:71933000-71933800	Enhancers	Brain Hippocampus Middle	brain
14	chr11:71933000-71933800	Enhancers	Fetal Thymus	thymus
15	chr11:71933200-71933800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:71933200-71933800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:71933200-71933800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:71933200-71933800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:71933200-71933800	Enhancers	Esophagus	oesophagus
20	chr11:71933200-71933800	Enhancers	Fetal Heart	heart
21	chr11:71933200-71933800	Enhancers	Psoas Muscle	Psoas
22	chr11:71933200-71933800	Enhancers	Stomach Mucosa	stomach
23	chr11:71933200-71933800	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr11:71933200-71933800	Enhancers	NHDF-Ad	bronchial
25	chr11:71933200-71934200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:71933200-71934200	Flanking Active TSS	Hela-S3	cervix
27	chr11:71933200-71934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:71933400-71933800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:71933400-71933800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:71933400-71933800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:71933400-71933800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:71933400-71933800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:71933400-71933800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:71933400-71933800	Enhancers	Lung	lung
35	chr11:71933400-71933800	Enhancers	Right Atrium	heart
36	chr11:71933400-71933800	Enhancers	Small Intestine	intestine
37	chr11:71933400-71934000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr11:71933400-71934000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:71933400-71934000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:71933400-71934000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr11:71933400-71934000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr11:71933400-71934000	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr11:71933400-71934000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:71933400-71934000	Flanking Active TSS	Dnd41	blood
45	chr11:71933400-71934000	Flanking Active TSS	K562	blood
46	chr11:71933400-71934200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:71933400-71934200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr11:71933400-71934200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:71933400-71934200	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr11:71933400-71934200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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