Variant report

Variant	rs548930921
Chromosome Location	chr11:57091630-57091631
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	ZBTB7A	chr11:57091354-57092381	ECC-1	luminal epithelium:	n/a	chr11:57092124-57092133
2	MXI1	chr11:57088908-57093652	IMR90	lung:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
3	JUND	chr11:57091554-57091896	K562	blood:	n/a	n/a
4	SMARCB1	chr11:57091464-57093354	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:57091549-57093061	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:57090096-57093913	Hela-S3	cervix:	n/a	n/a
7	EP300	chr11:57091555-57091926	SK-N-SH_RA	brain:	n/a	n/a
8	ZBTB7A	chr11:57091570-57092625	K562	blood:	n/a	chr11:57092124-57092133
9	CHD2	chr11:57091520-57091838	K562	blood:	n/a	n/a
10	EP300	chr11:57091370-57091902	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr11:57091464-57091947	T-47D	breast:	n/a	n/a
12	EP300	chr11:57091516-57091945	T-47D	breast:	n/a	n/a
13	POLR2A	chr11:57090873-57091967	PFSK-1	brain:	n/a	n/a
14	CTCF	chr11:57091560-57091710	HCPEpiC	choroid plexus:	n/a	n/a
15	POLR2A	chr11:57091505-57092323	SK-N-MC	brain:	n/a	n/a
16	UBTF	chr11:57091441-57091827	K562	blood:	n/a	n/a
17	MAX	chr11:57091456-57093466	HepG2	liver:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
18	MAZ	chr11:57091607-57093278	K562	blood:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
19	POLR2A	chr11:57091276-57091999	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr11:57089010-57093760	SK-N-SH	brain:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
21	POLR2A	chr11:57091067-57092232	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:57091381-57093887	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr11:57091600-57093490	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:57091468-57091630	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:57088922-57094541	PFSK-1	brain:	n/a	n/a
26	ZBTB7A	chr11:57091622-57092253	HepG2	liver:	n/a	chr11:57092124-57092133
27	SIN3AK20	chr11:57091616-57092252	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr11:57091354-57093515	IMR90	lung:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
29	ZBTB7A	chr11:57091249-57092390	ECC-1	luminal epithelium:	n/a	chr11:57092124-57092133
30	EP300	chr11:57091503-57091927	HepG2	liver:	n/a	n/a
31	TAF1	chr11:57091565-57091877	H1-hESC	embryonic stem cell:	n/a	n/a
32	HCFC1	chr11:57091628-57091746	K562	blood:	n/a	n/a
33	TBL1XR1	chr11:57091600-57091750	K562	blood:	n/a	n/a
34	POLR2A	chr11:57091607-57093061	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr11:57091530-57093461	A549	lung:	n/a	n/a
36	POLR2A	chr11:57089539-57093525	IMR90	lung:	n/a	n/a
37	TAF1	chr11:57091552-57092021	H1-hESC	embryonic stem cell:	n/a	n/a
38	EP300	chr11:57091555-57091946	SK-N-SH_RA	brain:	n/a	n/a
39	ZBTB7A	chr11:57091308-57092825	K562	blood:	n/a	chr11:57092124-57092133
40	EP300	chr11:57091347-57091926	A549	lung:	n/a	n/a
41	POLR2A	chr11:57091530-57091730	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:57091608-57091961	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZBTB7A	chr11:57091524-57092246	HepG2	liver:	n/a	chr11:57092124-57092133
44	JUND	chr11:57091555-57092018	A549	lung:	n/a	n/a
45	REST	chr11:57091340-57093450	H1-neurons	neurons:	n/a	chr11:57092715-57092728
46	HMGN3	chr11:57091330-57091791	K562	blood:	n/a	chr11:57091577-57091584
47	JUND	chr11:57091510-57091895	H1-hESC	embryonic stem cell:	n/a	n/a
48	TBP	chr11:57091594-57093229	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:57091587-57091940	HUVEC	blood vessel:	n/a	n/a
50	SIN3A	chr11:57091425-57093327	H1-hESC	embryonic stem cell:	n/a	chr11:57091603-57091612

No.	Distal block	Cell Line	Cell type
1	chr11:57091420..57094384-chr11:57190255..57192267,2	K562	blood:
2	chr11:57091125..57093687-chr11:57243997..57245679,2	MCF-7	breast:
3	chr11:57091497..57091997-chr14:105261722..105262252,2	MCF-7	breast:
4	chr11:57090718..57092392-chr11:57160324..57163137,2	K562	blood:

Variant related genes	Relation type
ENSG00000254662	TF binding region
TNKS1BP1	TF binding region
ENSG00000142208	Chromatin interaction
ENSG00000254979	Chromatin interaction
ENSG00000255301	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	chr11:57088800-57091800	Flanking Active TSS	Fetal Muscle Trunk	muscle
2	chr11:57088800-57091800	Active TSS	Right Atrium	heart
3	chr11:57088800-57091800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:57089200-57091800	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr11:57089200-57093600	Active TSS	Aorta	Aorta
6	chr11:57089400-57091800	Flanking Active TSS	Fetal Muscle Leg	muscle
7	chr11:57089400-57091800	Flanking Active TSS	Placenta	Placenta
8	chr11:57089600-57093400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:57090000-57092800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr11:57090000-57093000	Active TSS	Right Ventricle	heart
11	chr11:57090200-57091800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr11:57090200-57091800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr11:57090400-57091800	Flanking Active TSS	Fetal Brain Male	brain
14	chr11:57090600-57091800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:57090600-57091800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr11:57090600-57092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:57090800-57091800	Flanking Active TSS	GM12878-XiMat	blood
18	chr11:57090800-57093200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr11:57091000-57091800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:57091000-57091800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:57091000-57091800	Flanking Active TSS	Thymus	Thymus
22	chr11:57091000-57091800	Flanking Active TSS	HUVEC	blood vessel
23	chr11:57091000-57092800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57091000-57092800	Active TSS	Colonic Mucosa	Colon
25	chr11:57091000-57092800	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:57091000-57093000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:57091000-57093000	Active TSS	Fetal Kidney	kidney
28	chr11:57091000-57093000	Active TSS	Placenta Amnion	Placenta Amnion
29	chr11:57091000-57093200	Active TSS	Gastric	stomach
30	chr11:57091000-57093200	Active TSS	Small Intestine	intestine
31	chr11:57091200-57091800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr11:57091200-57091800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:57091200-57091800	Flanking Active TSS	Fetal Thymus	thymus
34	chr11:57091200-57092000	Flanking Active TSS	Dnd41	blood
35	chr11:57091200-57092600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:57091200-57092600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:57091200-57092600	Active TSS	NHLF	lung
38	chr11:57091200-57092800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:57091200-57092800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:57091200-57092800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr11:57091200-57092800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:57091200-57092800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:57091200-57092800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:57091200-57092800	Active TSS	HSMM	muscle
45	chr11:57091200-57092800	Active TSS	NHDF-Ad	bronchial
46	chr11:57091200-57092800	Active TSS	NHEK	skin
47	chr11:57091200-57093000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:57091200-57093000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:57091200-57093000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr11:57091200-57093000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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