Variant report

Variant	rs537642967
Chromosome Location	chr11:59436464-59436465
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	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	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
4	POLR2A	chr11:59435690-59437363	GM18526	blood:	n/a	n/a
5	TAF1	chr11:59436428-59436648	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:59436175-59437314	HepG2	liver:	n/a	n/a
7	BHLHE40	chr11:59436450-59437274	HepG2	liver:	n/a	n/a
8	ELF1	chr11:59435743-59436860	K562	blood:	n/a	chr11:59436330-59436343
9	POLR2A	chr11:59435409-59437591	U87	brain:	n/a	n/a
10	YY1	chr11:59436326-59436792	K562	blood:	n/a	chr11:59436476-59436485
11	MXI1	chr11:59436048-59437130	K562	blood:	n/a	n/a
12	POLR2A	chr11:59435960-59437366	HUVEC	blood vessel:	n/a	n/a
13	MXI1	chr11:59435221-59438035	SK-N-SH	brain:	n/a	n/a
14	CBX3	chr11:59436425-59437381	K562	blood:	n/a	n/a
15	USF1	chr11:59436391-59437013	K562	blood:	n/a	n/a
16	POLR2A	chr11:59435658-59437343	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:59436369-59437475	H1-hESC	embryonic stem cell:	n/a	n/a
18	ELF1	chr11:59436249-59436892	MCF-7	breast:	n/a	chr11:59436330-59436343
19	ELF1	chr11:59436270-59436945	MCF-7	breast:	n/a	chr11:59436330-59436343
20	POLR2A	chr11:59435538-59437431	GM19099	blood:	n/a	n/a
21	POLR2A	chr11:59435629-59437329	K562	blood:	n/a	n/a
22	POLR2A	chr11:59436115-59437374	PFSK-1	brain:	n/a	n/a
23	SIN3AK20	chr11:59435946-59437233	SK-N-SH	brain:	n/a	n/a
24	CEBPD	chr11:59436187-59436666	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:59435491-59437679	Hela-S3	cervix:	n/a	n/a
26	HA-E2F1	chr11:59436401-59437669	MCF-7	breast:	n/a	chr11:59436639-59436648 chr11:59436512-59436521
27	POLR2A	chr11:59435050-59437612	MCF10A-Er-Src	breast:	n/a	n/a
28	SIN3AK20	chr11:59435629-59436822	PANC-1	pancreas:	n/a	n/a
29	TAF1	chr11:59436326-59437180	SK-N-SH	brain:	n/a	n/a
30	MYC	chr11:59435768-59437019	NB4	blood:	n/a	chr11:59436066-59436076
31	YY1	chr11:59436107-59436721	GM12878	blood:	n/a	chr11:59436476-59436485 chr11:59436253-59436264
32	MAZ	chr11:59435655-59437489	K562	blood:	n/a	chr11:59436066-59436076
33	CREB1	chr11:59435569-59437585	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:59436231-59437328	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:59436373-59436918	HepG2	liver:	n/a	n/a
36	RCOR1	chr11:59436434-59437595	Hela-S3	cervix:	n/a	n/a
37	MAX	chr11:59436399-59437580	ECC-1	luminal epithelium:	n/a	n/a
38	JUND	chr11:59436422-59436575	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr11:59436270-59437472	SK-N-SH	brain:	n/a	n/a
40	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
41	POLR2A	chr11:59436372-59437204	K562	blood:	n/a	n/a
42	MAX	chr11:59435819-59437654	A549	lung:	n/a	chr11:59436066-59436076
43	ELF1	chr11:59436343-59436774	HepG2	liver:	n/a	n/a
44	MAX	chr11:59435975-59437375	K562	blood:	n/a	chr11:59436066-59436076
45	POLR2A	chr11:59436319-59437017	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr11:59436288-59437447	GM12891	blood:	n/a	n/a
47	GATA2	chr11:59436456-59437670	SH-SY5Y	brain:	n/a	n/a
48	POLR2A	chr11:59435718-59437856	Raji	blood:	n/a	n/a
49	POLR2A	chr11:59436389-59437607	H1-hESC	embryonic stem cell:	n/a	n/a
50	MXI1	chr11:59435463-59437624	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	chr11:59436077..59436715-chr3:100428082..100428818,2	Hela-S3	cervix:
3	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
4	chr11:59435853..59436487-chr16:88729728..88730305,2	Hela-S3	cervix:
5	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
6	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
7	chr11:59435921..59436657-chr14:24740330..24740936,2	Hela-S3	cervix:
8	chr11:59436132..59436823-chr11:59522370..59523215,2	Hela-S3	cervix:
9	chr11:59436339..59437316-chr3:14165785..14166599,2	Hela-S3	cervix:
10	chr11:59436292..59437100-chr19:39936247..39937025,2	Hela-S3	cervix:
11	chr11:59436447..59437072-chr2:242255223..242255824,2	Hela-S3	cervix:
12	chr11:59435931..59436776-chr15:43802144..43802835,2	NB4	blood:
13	chr11:59436284..59437132-chr18:12883857..12884750,2	Hela-S3	cervix:
14	chr11:59331158..59335239-chr11:59432687..59436578,5	K562	blood:
15	chr1:152020083..152020779-chr11:59436443..59437077,2	NB4	blood:

Variant related genes	Relation type
PATL1	TF binding region
ENSG00000255355	TF binding region
ENSG00000067369	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000255008	Chromatin interaction
ENSG00000114354	Chromatin interaction
ENSG00000254477	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000260630	Chromatin interaction
ENSG00000115677	Chromatin interaction
ENSG00000166902	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000170876	Chromatin interaction
ENSG00000168385	Chromatin interaction
ENSG00000163528	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000175354	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	chr11:59435200-59437600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:59435200-59437600	Active TSS	Right Ventricle	heart
10	chr11:59435200-59437800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:59435200-59438000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:59435200-59438600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:59435400-59437000	Active TSS	Fetal Muscle Trunk	muscle
14	chr11:59435400-59437200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:59435400-59437400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:59435400-59437400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:59435400-59437400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:59435400-59437600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:59435400-59437600	Active TSS	Lung	lung
20	chr11:59435400-59437600	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:59435400-59437600	Active TSS	NHDF-Ad	bronchial
22	chr11:59435400-59437800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:59435600-59436800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:59435600-59437200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr11:59435600-59437200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:59435600-59437200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:59435600-59437200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:59435600-59437200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:59435600-59437200	Active TSS	Fetal Intestine Small	intestine
30	chr11:59435600-59437200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:59435600-59437200	Active TSS	A549	lung
32	chr11:59435600-59437200	Active TSS	GM12878-XiMat	blood
33	chr11:59435600-59437200	Active TSS	Hela-S3	cervix
34	chr11:59435600-59437200	Active TSS	HMEC	breast
35	chr11:59435600-59437200	Active TSS	K562	blood
36	chr11:59435600-59437400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:59435600-59437400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:59435600-59437400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr11:59435600-59437400	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:59435600-59437400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:59435600-59437400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:59435600-59437400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr11:59435600-59437400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:59435600-59437400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:59435600-59437400	Active TSS	Liver	Liver
46	chr11:59435600-59437400	Active TSS	Brain Angular Gyrus	brain
47	chr11:59435600-59437400	Active TSS	Brain Anterior Caudate	brain
48	chr11:59435600-59437400	Active TSS	Fetal Kidney	kidney
49	chr11:59435600-59437400	Active TSS	Gastric	stomach
50	chr11:59435600-59437400	Active TSS	Spleen	Spleen

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