Variant report

Variant	rs548040151
Chromosome Location	chr11:59435971-59435972
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	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
5	POLR2A	chr11:59435690-59437363	GM18526	blood:	n/a	n/a
6	SIN3AK20	chr11:59435697-59436106	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr11:59435412-59436137	MCF10A-Er-Src	breast:	n/a	chr11:59436070-59436082
8	ZC3H11A	chr11:59435720-59436244	K562	blood:	n/a	n/a
9	ELF1	chr11:59435743-59436860	K562	blood:	n/a	chr11:59436330-59436343
10	YY1	chr11:59435799-59436083	GM12878	blood:	n/a	chr11:59436068-59436077 chr11:59436069-59436080
11	POLR2A	chr11:59435409-59437591	U87	brain:	n/a	n/a
12	RELA	chr11:59435755-59436243	GM19099	blood:	n/a	chr11:59435989-59435998 chr11:59435989-59435998
13	CTCF	chr11:59435940-59436090	NHLF	lung:	n/a	n/a
14	POLR2A	chr11:59435960-59437366	HUVEC	blood vessel:	n/a	n/a
15	MXI1	chr11:59435221-59438035	SK-N-SH	brain:	n/a	n/a
16	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
17	RCOR1	chr11:59435434-59436215	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:59435658-59437343	GM12878	blood:	n/a	n/a
19	NR2F2	chr11:59435644-59436168	K562	blood:	n/a	n/a
20	POLR2A	chr11:59435538-59437431	GM19099	blood:	n/a	n/a
21	POLR2A	chr11:59435629-59437329	K562	blood:	n/a	n/a
22	CTCF	chr11:59435880-59436030	HCM	heart:	n/a	n/a
23	SIN3AK20	chr11:59435946-59437233	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:59435491-59437679	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:59435050-59437612	MCF10A-Er-Src	breast:	n/a	n/a
26	SIN3AK20	chr11:59435629-59436822	PANC-1	pancreas:	n/a	n/a
27	MYC	chr11:59435768-59437019	NB4	blood:	n/a	chr11:59436066-59436076
28	MAZ	chr11:59435655-59437489	K562	blood:	n/a	chr11:59436066-59436076
29	CREB1	chr11:59435569-59437585	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr11:59435576-59436369	K562	blood:	n/a	n/a
31	RCOR1	chr11:59435941-59436219	GM12878	blood:	n/a	n/a
32	ZKSCAN1	chr11:59435680-59436089	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr11:59435537-59436132	MCF10A-Er-Src	breast:	n/a	chr11:59436070-59436082
34	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
35	MAX	chr11:59435819-59437654	A549	lung:	n/a	chr11:59436066-59436076
36	POU2F2	chr11:59435678-59436280	GM12878	blood:	n/a	chr11:59435939-59435951 chr11:59436065-59436077
37	POLR2A	chr11:59435718-59437856	Raji	blood:	n/a	n/a
38	MXI1	chr11:59435463-59437624	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:59435614-59437673	GM18505	blood:	n/a	n/a
40	POLR2A	chr11:59435049-59438055	GM12891	blood:	n/a	n/a
41	MAZ	chr11:59435792-59436976	HepG2	liver:	n/a	chr11:59436066-59436076
42	CEBPB	chr11:59435552-59435974	Hela-S3	cervix:	n/a	chr11:59435738-59435749 chr11:59435584-59435596
43	MAX	chr11:59435406-59437554	Hela-S3	cervix:	n/a	chr11:59436066-59436076
44	RELA	chr11:59435620-59436210	GM18951	blood:	n/a	chr11:59435989-59435998 chr11:59435989-59435998
45	SMARCB1	chr11:59435683-59437424	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:59435503-59437589	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:59435252-59437646	GM12892	blood:	n/a	n/a
48	POLR2A	chr11:59435566-59436266	GM12892	blood:	n/a	n/a
49	EGR1	chr11:59435890-59436173	K562	blood:	n/a	chr11:59436072-59436081 chr11:59436068-59436083 chr11:59436069-59436082 chr11:59436068-59436078 chr11:59436063-59436076 chr11:59436066-59436076 chr11:59436015-59436039
50	HCFC1	chr11:59435284-59437792	Hela-S3	cervix:	n/a	n/a

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
ENSG00000166902	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000255008	Chromatin interaction
ENSG00000260630	Chromatin interaction
ENSG00000110048	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	chr11:59434400-59436000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:59434400-59437400	Active TSS	NHLF	lung
3	chr11:59434600-59436000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:59434600-59436000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr11:59434600-59436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:59434600-59436000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:59434600-59438400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:59434800-59436000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr11:59434800-59436000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:59435000-59436000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:59435000-59437400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:59435000-59437400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:59435000-59437800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:59435000-59437800	Active TSS	Psoas Muscle	Psoas
15	chr11:59435000-59437800	Active TSS	Right Atrium	heart
16	chr11:59435200-59436000	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr11:59435200-59436000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr11:59435200-59436000	Flanking Active TSS	Fetal Brain Female	brain
19	chr11:59435200-59436200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:59435200-59436200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr11:59435200-59437600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:59435200-59437600	Active TSS	Right Ventricle	heart
23	chr11:59435200-59437800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:59435200-59438000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:59435200-59438600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:59435400-59436000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:59435400-59436000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:59435400-59436000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr11:59435400-59436000	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr11:59435400-59436000	Flanking Active TSS	Fetal Brain Male	brain
31	chr11:59435400-59436000	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr11:59435400-59436000	Flanking Active TSS	Fetal Thymus	thymus
33	chr11:59435400-59436200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr11:59435400-59436200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr11:59435400-59436200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:59435400-59437000	Active TSS	Fetal Muscle Trunk	muscle
37	chr11:59435400-59437200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:59435400-59437400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:59435400-59437400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:59435400-59437400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:59435400-59437600	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:59435400-59437600	Active TSS	Lung	lung
43	chr11:59435400-59437600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr11:59435400-59437600	Active TSS	NHDF-Ad	bronchial
45	chr11:59435400-59437800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:59435600-59436000	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr11:59435600-59436200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:59435600-59436800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:59435600-59437200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr11:59435600-59437200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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