Variant report

Variant	rs552124406
Chromosome Location	chr11:59436063-59436064
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	GABPA	chr11:59435914-59437066	K562	blood:	n/a	chr11:59436511-59436525 chr11:59436068-59436077 chr11:59436638-59436647 chr11:59436511-59436522 chr11:59436635-59436649 chr11:59436638-59436649 chr11:59436511-59436520 chr11:59436440-59436449 chr11:59436508-59436522
2	POLR2A	chr11:59435908-59437378	K562	blood:	n/a	n/a
3	HA-E2F1	chr11:59435557-59436105	MCF-7	breast:	n/a	chr11:59435971-59435978 chr11:59435967-59435979 chr11:59435970-59435979 chr11:59435971-59435978 chr11:59436068-59436077 chr11:59435971-59435978
4	GABPA	chr11:59436057-59436406	K562	blood:	n/a	chr11:59436068-59436077
5	E2F4	chr11:59435831-59437357	K562	blood:	n/a	chr11:59435971-59435978 chr11:59435967-59435979 chr11:59436249-59436258 chr11:59436639-59436648 chr11:59435970-59435979 chr11:59436607-59436618 chr11:59435971-59435978 chr11:59436068-59436077 chr11:59435970-59435978 chr11:59435971-59435978 chr11:59436512-59436521
6	POLR2A	chr11:59435690-59437363	GM18526	blood:	n/a	n/a
7	SIN3AK20	chr11:59435697-59436106	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:59436040-59436190	SAEC	small airway:	n/a	n/a
9	STAT3	chr11:59435412-59436137	MCF10A-Er-Src	breast:	n/a	chr11:59436070-59436082
10	ZC3H11A	chr11:59435720-59436244	K562	blood:	n/a	n/a
11	ELF1	chr11:59435743-59436860	K562	blood:	n/a	chr11:59436330-59436343
12	YY1	chr11:59435799-59436083	GM12878	blood:	n/a	chr11:59436068-59436077 chr11:59436069-59436080
13	CTCF	chr11:59436040-59436190	GM12865	blood:	n/a	n/a
14	POLR2A	chr11:59435409-59437591	U87	brain:	n/a	n/a
15	RELA	chr11:59435755-59436243	GM19099	blood:	n/a	chr11:59435989-59435998 chr11:59435989-59435998
16	MXI1	chr11:59436048-59437130	K562	blood:	n/a	n/a
17	CTCF	chr11:59435940-59436090	NHLF	lung:	n/a	n/a
18	POLR2A	chr11:59435960-59437366	HUVEC	blood vessel:	n/a	n/a
19	MXI1	chr11:59435221-59438035	SK-N-SH	brain:	n/a	n/a
20	SP1	chr11:59435698-59436430	A549	lung:	n/a	chr11:59436074-59436084 chr11:59435809-59435819 chr11:59436067-59436079 chr11:59436074-59436084 chr11:59436247-59436259 chr11:59436068-59436078 chr11:59436068-59436077 chr11:59436069-59436078 chr11:59436064-59436078 chr11:59436247-59436259 chr11:59436249-59436258 chr11:59435809-59435819 chr11:59436067-59436079 chr11:59436248-59436257
21	RCOR1	chr11:59435434-59436215	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:59435658-59437343	GM12878	blood:	n/a	n/a
23	NR2F2	chr11:59435644-59436168	K562	blood:	n/a	n/a
24	POLR2A	chr11:59435538-59437431	GM19099	blood:	n/a	n/a
25	POLR2A	chr11:59435629-59437329	K562	blood:	n/a	n/a
26	SIN3AK20	chr11:59435946-59437233	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:59435491-59437679	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:59435050-59437612	MCF10A-Er-Src	breast:	n/a	n/a
29	SIN3AK20	chr11:59435629-59436822	PANC-1	pancreas:	n/a	n/a
30	CTCF	chr11:59436040-59436190	HVMF	connective:	n/a	n/a
31	CTCF	chr11:59436060-59436210	BJ	skin:	n/a	n/a
32	MYC	chr11:59435768-59437019	NB4	blood:	n/a	chr11:59436066-59436076
33	CTCF	chr11:59436060-59436210	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr11:59436060-59436210	SK-N-SH_RA	brain:	n/a	n/a
35	MAZ	chr11:59435655-59437489	K562	blood:	n/a	chr11:59436066-59436076
36	CREB1	chr11:59435569-59437585	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr11:59435576-59436369	K562	blood:	n/a	n/a
38	CTCF	chr11:59436060-59436210	AG09309	skin:	n/a	n/a
39	RCOR1	chr11:59435941-59436219	GM12878	blood:	n/a	n/a
40	ZKSCAN1	chr11:59435680-59436089	Hela-S3	cervix:	n/a	n/a
41	STAT3	chr11:59435537-59436132	MCF10A-Er-Src	breast:	n/a	chr11:59436070-59436082
42	HA-E2F1	chr11:59435780-59437293	Hela-S3	cervix:	n/a	chr11:59435971-59435978 chr11:59435967-59435979 chr11:59436249-59436258 chr11:59436639-59436648 chr11:59435970-59435979 chr11:59435971-59435978 chr11:59436068-59436077 chr11:59435971-59435978 chr11:59436512-59436521
43	MAX	chr11:59435819-59437654	A549	lung:	n/a	chr11:59436066-59436076
44	POU2F2	chr11:59435678-59436280	GM12878	blood:	n/a	chr11:59435939-59435951 chr11:59436065-59436077
45	MAX	chr11:59435975-59437375	K562	blood:	n/a	chr11:59436066-59436076
46	POLR2A	chr11:59435718-59437856	Raji	blood:	n/a	n/a
47	MXI1	chr11:59435463-59437624	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:59435614-59437673	GM18505	blood:	n/a	n/a
49	CTCF	chr11:59436060-59436210	MCF-7	breast:	n/a	n/a
50	ELK1	chr11:59436056-59436985	Hela-S3	cervix:	n/a	chr11:59436331-59436340 chr11:59436331-59436340

No.	Distal block	Cell Line	Cell type
1	chr11:59435855..59436853-chr11:59577486..59578454,2	Hela-S3	cervix:
2	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
3	chr11:59435853..59436487-chr16:88729728..88730305,2	Hela-S3	cervix:
4	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
5	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
6	chr11:59435921..59436657-chr14:24740330..24740936,2	Hela-S3	cervix:
7	chr11:59331158..59335239-chr11:59433739..59436205,3	K562	blood:
8	chr11:59435931..59436776-chr15:43802144..43802835,2	NB4	blood:
9	chr11:59331158..59335239-chr11:59432687..59436578,5	K562	blood:

Variant related genes	Relation type
ENSG00000255355	TF binding region
ENSG00000067369	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000260630	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000255008	Chromatin interaction
ENSG00000166902	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv3421301	chr11:59435201-59437749	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59434400-59437400	Active TSS	NHLF	lung
2	chr11:59434600-59438400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:59435000-59437400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:59435000-59437400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:59435000-59437800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:59435000-59437800	Active TSS	Psoas Muscle	Psoas
7	chr11:59435000-59437800	Active TSS	Right Atrium	heart
8	chr11:59435200-59436200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:59435200-59436200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr11:59435200-59437600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:59435200-59437600	Active TSS	Right Ventricle	heart
12	chr11:59435200-59437800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:59435200-59438000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:59435200-59438600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:59435400-59436200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr11:59435400-59436200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr11:59435400-59436200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:59435400-59437000	Active TSS	Fetal Muscle Trunk	muscle
19	chr11:59435400-59437200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:59435400-59437400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:59435400-59437400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:59435400-59437400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:59435400-59437600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:59435400-59437600	Active TSS	Lung	lung
25	chr11:59435400-59437600	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr11:59435400-59437600	Active TSS	NHDF-Ad	bronchial
27	chr11:59435400-59437800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:59435600-59436200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:59435600-59436800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:59435600-59437200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:59435600-59437200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:59435600-59437200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:59435600-59437200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:59435600-59437200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:59435600-59437200	Active TSS	Fetal Intestine Small	intestine
36	chr11:59435600-59437200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:59435600-59437200	Active TSS	A549	lung
38	chr11:59435600-59437200	Active TSS	GM12878-XiMat	blood
39	chr11:59435600-59437200	Active TSS	Hela-S3	cervix
40	chr11:59435600-59437200	Active TSS	HMEC	breast
41	chr11:59435600-59437200	Active TSS	K562	blood
42	chr11:59435600-59437400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:59435600-59437400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:59435600-59437400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:59435600-59437400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:59435600-59437400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:59435600-59437400	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr11:59435600-59437400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr11:59435600-59437400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:59435600-59437400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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