Variant report

Variant	rs539491186
Chromosome Location	chr11:57091895-57091896
allele	A/C
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	MAX	chr11:57091895-57092273	ECC-1	luminal epithelium:	n/a	chr11:57092097-57092106
2	MAZ	chr11:57091646-57093233	Hela-S3	cervix:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
3	POLR2A	chr11:57091768-57091922	A549	lung:	n/a	n/a
4	POLR2A	chr11:57091642-57091919	Hela-S3	cervix:	n/a	n/a
5	ZBTB7A	chr11:57091354-57092381	ECC-1	luminal epithelium:	n/a	chr11:57092124-57092133
6	MXI1	chr11:57088908-57093652	IMR90	lung:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
7	JUND	chr11:57091554-57091896	K562	blood:	n/a	n/a
8	SMARCB1	chr11:57091464-57093354	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:57091891-57093482	K562	blood:	n/a	n/a
10	POLR2A	chr11:57091549-57093061	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr11:57090096-57093913	Hela-S3	cervix:	n/a	n/a
12	EP300	chr11:57091555-57091926	SK-N-SH_RA	brain:	n/a	n/a
13	ZBTB7A	chr11:57091570-57092625	K562	blood:	n/a	chr11:57092124-57092133
14	MAX	chr11:57091682-57092370	H1-hESC	embryonic stem cell:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
15	E2F6	chr11:57091750-57091913	K562	blood:	n/a	n/a
16	EP300	chr11:57091370-57091902	ECC-1	luminal epithelium:	n/a	n/a
17	EP300	chr11:57091464-57091947	T-47D	breast:	n/a	n/a
18	EP300	chr11:57091516-57091945	T-47D	breast:	n/a	n/a
19	POLR2A	chr11:57090873-57091967	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr11:57091505-57092323	SK-N-MC	brain:	n/a	n/a
21	MAX	chr11:57091456-57093466	HepG2	liver:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
22	MAZ	chr11:57091607-57093278	K562	blood:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
23	POLR2A	chr11:57091276-57091999	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr11:57089010-57093760	SK-N-SH	brain:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
25	POLR2A	chr11:57091067-57092232	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr11:57091381-57093887	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:57091641-57091969	K562	blood:	n/a	n/a
28	CHD2	chr11:57091600-57093490	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:57091870-57093296	ProgFib	skin:	n/a	n/a
30	POLR2A	chr11:57091632-57091938	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:57088922-57094541	PFSK-1	brain:	n/a	n/a
32	ZBTB7A	chr11:57091622-57092253	HepG2	liver:	n/a	chr11:57092124-57092133
33	SIN3AK20	chr11:57091616-57092252	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr11:57091354-57093515	IMR90	lung:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
35	ZBTB7A	chr11:57091249-57092390	ECC-1	luminal epithelium:	n/a	chr11:57092124-57092133
36	EP300	chr11:57091503-57091927	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:57091767-57091938	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:57091887-57093977	HL-60	blood:	n/a	n/a
39	POLR2A	chr11:57091607-57093061	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr11:57091530-57093461	A549	lung:	n/a	n/a
41	POLR2A	chr11:57089539-57093525	IMR90	lung:	n/a	n/a
42	TAF1	chr11:57091552-57092021	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr11:57091656-57093470	K562	blood:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
44	EP300	chr11:57091555-57091946	SK-N-SH_RA	brain:	n/a	n/a
45	ZBTB7A	chr11:57091308-57092825	K562	blood:	n/a	chr11:57092124-57092133
46	EP300	chr11:57091347-57091926	A549	lung:	n/a	n/a
47	POLR2A	chr11:57091608-57091961	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZBTB7A	chr11:57091524-57092246	HepG2	liver:	n/a	chr11:57092124-57092133
49	POLR2A	chr11:57091759-57093580	HUVEC	blood vessel:	n/a	n/a
50	MAX	chr11:57091634-57091994	K562	blood:	n/a	chr11:57091829-57091839

No.	Distal block	Cell Line	Cell type
1	chr11:57091420..57094384-chr11:57190255..57192267,2	K562	blood:
2	chr11:57091726..57094053-chr11:57435298..57437706,2	K562	blood:
3	chr11:57091848..57092562-chr20:43976651..43977181,2	Hela-S3	cervix:
4	chr11:57091732..57092432-chr6:33382453..33383005,2	Hela-S3	cervix:
5	chr11:57091125..57093687-chr11:57243997..57245679,2	MCF-7	breast:
6	chr11:57091497..57091997-chr14:105261722..105262252,2	MCF-7	breast:
7	chr11:57090718..57092392-chr11:57160324..57163137,2	K562	blood:

Variant related genes	Relation type
ENSG00000254662	TF binding region
TNKS1BP1	TF binding region
ENSG00000255301	Chromatin interaction
ENSG00000254979	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000124145	Chromatin interaction
ENSG00000112511	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3408359	chr11:57090901-57093749	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3369727	chr11:57091026-57093624	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3403312	chr11:57091576-57093024	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 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	chr11:57089200-57093600	Active TSS	Aorta	Aorta
2	chr11:57089600-57093400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:57090000-57092800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:57090000-57093000	Active TSS	Right Ventricle	heart
5	chr11:57090600-57092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:57090800-57093200	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr11:57091000-57092800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:57091000-57092800	Active TSS	Colonic Mucosa	Colon
9	chr11:57091000-57092800	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:57091000-57093000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:57091000-57093000	Active TSS	Fetal Kidney	kidney
12	chr11:57091000-57093000	Active TSS	Placenta Amnion	Placenta Amnion
13	chr11:57091000-57093200	Active TSS	Gastric	stomach
14	chr11:57091000-57093200	Active TSS	Small Intestine	intestine
15	chr11:57091200-57092000	Flanking Active TSS	Dnd41	blood
16	chr11:57091200-57092600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:57091200-57092600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:57091200-57092600	Active TSS	NHLF	lung
19	chr11:57091200-57092800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:57091200-57092800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:57091200-57092800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:57091200-57092800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:57091200-57092800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:57091200-57092800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:57091200-57092800	Active TSS	HSMM	muscle
26	chr11:57091200-57092800	Active TSS	NHDF-Ad	bronchial
27	chr11:57091200-57092800	Active TSS	NHEK	skin
28	chr11:57091200-57093000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:57091200-57093000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:57091200-57093000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:57091200-57093000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:57091200-57093000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:57091200-57093000	Active TSS	Esophagus	oesophagus
34	chr11:57091200-57093000	Active TSS	Left Ventricle	heart
35	chr11:57091200-57093000	Active TSS	Lung	lung
36	chr11:57091200-57093000	Active TSS	HSMMtube	muscle
37	chr11:57091200-57093200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:57091200-57093200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:57091200-57093200	Active TSS	Ovary	ovary
40	chr11:57091200-57093200	Active TSS	Psoas Muscle	Psoas
41	chr11:57091200-57093400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:57091400-57092000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:57091400-57092000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:57091400-57092600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:57091400-57092600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:57091400-57092800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:57091400-57092800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr11:57091400-57092800	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:57091400-57092800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:57091400-57092800	Active TSS	Rectal Mucosa Donor 31	rectum

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